A look by researchers of 23andMe’s internal data from customers who consented to participate in research reveals that some gut health issues affect females differently than males and that these conditions have a bigger impact on people of some ethnicities than others.
The insights come from 23andMe internal data regarding two relatively common gut health conditions, irritable bowel syndrome (IBS) and diverticulitis. The findings confirmed what we already know about common gut health issues and their importance in overall health. It also highlights that genetics plays a big role in the likelihood of developing one of these conditions. 
The data shows that the prevalence of these conditions is more common within some ethnicities. Beyond that, certain genetic variants can increase an individual’s risk compared to others of the same ethnicity. Noting the role that ethnicity and genetics play would be important considerations in assessing an individual’s likelihood of developing either IBS or diverticulitis.
This snapshot of 23andMe data from customers who consented to participate in research looks at just two of the<a href="https://www.niddk.nih.gov/health-information/health-statistics/digestive-diseases"> many digestive conditions</a> related to gut health, but they are two conditions that impact millions of people worldwide. 
<h6>The 23andMe Data on IBS</h6>
In the case of IBS, estimates are that it impacts<a href="https://aboutibs.org/what-is-ibs/facts-about-ibs/"> between 25 and 45 million people</a> in the US alone, and it impacts females at a much higher rate. Symptoms often include abdominal pain, cramping, bloating, and changes in bowel function, including diarrhea, constipation, or both.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30700" src="http://35.88.189.111/wp-content/uploads/2022/11/ibs-by-age-and-sex.png" alt="" width="550" height="662" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/ibs-by-age-and-sex.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/ibs-by-age-and-sex-249x300.png 249w" sizes="auto, (max-width: 550px) 100vw, 550px" />
A study published in <a href="https://www.nature.com/articles/s41588-021-00950-8">Nature</a> in late 2021 found that IBS symptoms may be caused by the same biological processes that trigger anxiety, depression, and insomnia. It’s not that IBS causes anxiety or mood disorders but that certain genes are involved in the progression of these conditions. Several studies also indicate that these conditions impact females more than males.
According to data from 23andMe, females are about two and a half times more likely to develop the condition than males. (See figure that compares males and females with IBS by age.) While it’s well documented that<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175559/"> sex can impact the likelihood</a> of an individual’s likelihood of developing IBS, far less is known about the role genetics play in this common condition.
Perhaps even more than sex differences, ethnicity and genetics impacts the likelihood of developing IBS. According to new modeling done by 23andMe scientists, both genetics and ethnicity have a big impact on the likelihood of an individual being diagnosed with IBS. In some cases, they present a much bigger risk than previously published non-genetic factors.
In looking at ethnicity, people with largely Latino or largely European ancestry have the highest likelihood of developing IBS compared to those of other ethnicities. For example, people with mostly European ancestry are almost three times more likely to develop IBS than those of mostly East Asian ancestry. 
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30702" src="http://35.88.189.111/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity.png" alt="" width="550" height="452" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity-300x247.png 300w" sizes="auto, (max-width: 550px) 100vw, 550px" />
<h6>Statistical Modeling</h6>
When researchers stratified the data and looked at individuals with a higher genetic likelihood of developing IBS — based on statistical modeling that used more than 12,000 genetic markers associated with IBS — compared to those with the least likelihood, the differences were stark. 
For example, people with predominantly Latino ancestry who also were in the highest genetic likelihood* category for IBS are four and a half times more likely to be diagnosed with IBS than Latinos with the lowest genetic likelihood.** If you look at people with primarily European ancestry who are also in that higher genetic likelihood category,* they were more than three and a half times more likely to be diagnosed with IBS than people of European ancestry at the lowest genetic likelihood.**
Why is this distinction important?  
Because it shows the outsized impact that genetic factors play on the likelihood of IBS. If you were to graph the polygenic risk for IBS, you’d see a bell curve distribution. Most people would have an average risk or be in the middle of that curve. But at the ends of this curve would be those with the least risk and the most risk.
For those with the highest genetic likelihood* — in the top five percent — the odds that they may develop IBS are quite high when compared to those at the lowest likelihood.** That information on their genetics could be very important for them and their provider in managing their health.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30703" src="http://35.88.189.111/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk.png" alt="" width="550" height="764" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk-216x300.png 216w" sizes="auto, (max-width: 550px) 100vw, 550px" />
<h6>23andMe Data on Diverticulitis </h6>
23andMe’s data on diverticulitis confirms some of what we already know but also offers up a few surprises.
As with IBS, both ethnicity and genetics play an important role in the likelihood of developing diverticulitis. While it is relatively common, many people don’t know much about diverticulitis.
It occurs in the intestinal tract, where weak sections of the intestines lead to small bulges or pouches that become inflamed. These pouches, most often found in the large intestine (also called the colon), are called “diverticula.” They are common, especially as we age, but do not cause problems.
It’s estimated that more than half of people in the United States over 60 have diverticula and most likely never have any issues. But fewer than five percent of those individuals will develop inflammation in these pouches, a condition called “diverticulitis,” according to the<a href="https://www.niddk.nih.gov/health-information/digestive-diseases/diverticulosis-diverticulitis/definition-facts"> National Institutes of Health.</a> This can lead to symptoms such as abdominal pain, vomiting, fever, constipation, or diarrhea. More serious complications, such as blockages or perforations, can lead to hospitalization.
<h6>Diverticulitis and Ethnicity</h6>
While females were more likely to have been diagnosed with diverticulitis, the difference between males and females was less profound than that for IBS. And in the case of diverticulitis, the likelihood of developing the condition increases considerably as people age, according to the data.
People of European ancestry had the highest prevalence for diverticulitis and those of South Asian ancestry the lowest among individuals we studied.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30713" src="http://35.88.189.111/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex.png" alt="" width="550" height="662" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex-249x300.png 249w" sizes="auto, (max-width: 550px) 100vw, 550px" />
Looking at genetic likelihood of developing the condition, 23andMe data indicates that people with North African ancestry and Western Asian ancestry (Arabs, Kurds, Persians, and people from Anatolia for example) with the highest genetic risk* for being diagnosed with diverticulitis are about seven times more likely to be diagnosed with diverticulitis than those with the lowest genetic risk.**  
People of mostly European ancestry with the highest genetic risk* are five and a half times more likely to be diagnosed with diverticulitis based on their genetics than those with the lowest genetic risk.** People with mostly East or Southeast Asian ancestry who are at the highest genetic risk* for diverticulitis are five times more likely to be diagnosed with diverticulitis than those with the lowest genetic risk.**
<h6>Wrapping Up</h6>
This snapshot of 23andMe data on two gut health conditions reveals something many haven’t fully understood. It&#8217;s not just that genetics plays an important role in risk, but a person&#8217;s genetics together with their ethnicity matter. 
*Highest risk category: 5% of a given ethnicity, for example, Latino, with the highest genetic risk of being diagnosed with a condition
**Lowest risk category: 5% of a given ethnicity with the lowest genetic risk of being diagnosed with a condition.

23andMe Blog

23andMe Blog Team

Some Data to Digest About Gut Health

Listening to those with a rare disease, a common refrain is that they often feel isolated, unheard, and alone.
But they’re not alone.&nbsp;&nbsp;
<h6>Much to Learn</h6>
While each rare disease is by definition uncommon — affecting fewer than 200,000 people — there are more than 7,000 known rare diseases. There are more than 300 million people worldwide who have a rare disease. Yet because these rare diseases are unique and affect small groups of people, the conditions are difficult to study.&nbsp;
Disease research can sometimes be a numbers game, and research into rare diseases is often stymied as scientists struggle to gather enough individuals with the condition who are able to participate in their research. While we know that about 70 percent of rare diseases are genetic, there is so much we don’t know about these conditions. Only about 5 percent of all rare diseases have approved treatments.&nbsp;&nbsp;
<h6>Potential for Insight</h6>
23andMe hopes to change that. Part of our mission as a company is to focus our therapeutics efforts on conditions with unmet needs and to maximize our chances of discovering novel genetic insights to help in that search.&nbsp;
In the last few years, our researchers have discovered how powerful our unique research platform is for making important discoveries about these rare conditions. People with rare diseases are not limited by geography, and can easily participate in research if they choose, while our scientists can leverage online tools and data on a massive scale, to study a broad range of conditions.
“We have the potential of making genetic findings for several rare diseases for which there currently is very little known,” said John Matthews, Ph.D., M.D., and the Senior Clinical Development Fellow on 23andMe’s Therapeutics team.
<h6>23andMe’s Rare Disease Research Study</h6>
23andMe’s Rare Disease Research Study will start with a handful of rare diseases, recruiting individuals to participate in innovative genetic research around —<a href="https://www.23andme.com/systemic-sclerosis-study/"> systemic sclerosis</a> (a study we first started in 2021), ANCA-associated vasculitis, pemphigus vulgaris, and dermatomyositis.&nbsp;
<ul>
<li style="font-weight: 400;" aria-level="1">Systemic sclerosis causes the hardening of the body’s connective tissue.</li>
<li style="font-weight: 400;" aria-level="1">ANCA-associated vasculitis (AAV) is actually a group of autoimmune diseases that are characterized by inflammation of small vessels.&nbsp;</li>
<li style="font-weight: 400;" aria-level="1">Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin as well as the mucous membranes.</li>
<li style="font-weight: 400;" aria-level="1">Dermatomyositis is an inflammatory disease marked by muscle weakness and a distinctive skin rash.</li>
</ul>
In addition to these four conditions, 23andMe will expand another existing rare disease study on <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">&nbsp;idiopathic pulmonary fibrosis</a>, which causes irreparable scarring of the lungs that progressively worsens lung function. The study now will broaden to include other types of lung fibrosis as part of this program.&nbsp;
The hope is that this work will lead to discoveries and insights into possible new treatments. We plan to slowly expand the number of conditions we study in the coming months.
In typical rare disease research, scientists have relied on very small cohorts of perhaps a few dozen individuals or studied members of the same family who all might share a rare condition. But that makes it very difficult to gain new insight into genetic variants that were previously unknown to be associated with these rare conditions.
<h6>A Revelation</h6>
In what at the time was believed to be the largest genetic study of rare diseases, 23andMe published research in 2021 explaining how the company is uniquely positioned to<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> study rare diseases.</a>&nbsp;
Using data from more than 1.6 million research participants, including 19,000 who reported a rare disease diagnosis, 23andMe scientists conduct genome-wide association studies on 33 different rare diseases. The 23andMe study is the first Genome-Wide Association Study (GWAS) ever done for a few of these rare conditions. The study identified new genetic associations for each. The research was a revelation. Finding these associations offers scientists a deeper understanding of the biological pathways for the conditions and offers the possibility for identifying potential treatments.
“It was a surprise for us when we were able to find genetic associations in studies of rare diseases with only tens of affected individuals,” said 23andMe senior scientist in statistical genetics, Suyash Shringarpure, Ph.D., who worked on the study. “Another surprise was finding that common genetic variants show association with rare disease risk. Previously, it has been found that rare genetic variants cause rare diseases, so this was unexpected.”
You can learn more about 23andMe’s Rare Disease Study by following the links to the disease-specific landing pages below:
<ul>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/systemic-sclerosis/">Systemic sclerosis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/anca-associated-vasculitis/">ANCA-associated vasculitis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/">Pemphigus vulgaris</a></li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/dermatomyositis/">Dermatomyositis</a></li>
</ul>
<h6></h6>

23andMe Launches Rare Diseases Study

A new genetic study identified five regions in the human genome associated with susceptibility to pneumonia, a leading cause of death worldwide.
Published in the journal<a href="https://www.nature.com/articles/s41467-022-31473-3"> Nature Communications</a>, the study also found a surprising link between the risk of pneumonia and psychiatric conditions, such as schizophrenia, bipolar disorder, and major depression.
There are several types of pneumonia, but the most common involve bacterial or viral infection in the lungs. The condition can be deadly for those most physically vulnerable, particularly the elderly and young children. Many of those hospitalized for COVID-19 also end up having to be treated for pneumonia.
<h2>Five Genetic Regions</h2>
This study was led by researchers at the University of Newcastle in Australia. It included data from over half a million individuals and is believed to be the largest genomic study of pneumonia ever done. The research included data from 23andMe customers who consented to participate in research and data from the<a href="https://www.finngen.fi/en"> FinnGen</a> consortium.
The researchers identified five genetic regions associated with pneumonia. Some previously identified associations within human leukocyte antigen (HLA) genes were among those. 
The HLA genes are the hundreds of genes on chromosome 6 that regulate the body’s immune system. The HLA gene also regulates the response to invading pathogens like viruses and bacteria. 
<h2>Role of Inflammation</h2>
The team also found three new associations in genes related to inflammation and immunity and another new association in the gene MUC5AC. The gene is in a cluster of genes that regulate the production of mucin proteins in the body. Mucin proteins make up mucus, the substance that lubricates and protects the lining of the airways, digestive tract, and reproductive system. The up-regulation of MUC5AC may exacerbate pneumonia by inducing inflammation in the airways.
According to the researchers, the link between the genetic risk for pneumonia and psychiatric conditions may be related to inflammation.
“I think it&#8217;s surprising, but in some ways, it’s not, as there are thought to be inflammatory risks for mental illness,”<a href="https://www.newcastle.edu.au/newsroom/featured/pneumonia-risk-signals-potential-for-precision-medicine"> said Murray Cairns,</a> one of the paper’s co-authors and a principal investigator at the University of Newcastle’s HMRI Precision Medicine Research Program. “(Inflammation) is a well-known risk factor for psychiatric illness, so it&#8217;s potentially a risk shared between those disorders.”
The researchers acknowledge that much more must be done to understand the link between pneumonia and mental illness. However, in the paper, they hypothesize that the connection may be related to HLA genes and either their overreaction, inflammation, or inadequate response to an infection.
Understanding the role of this link with inflammation and the genetic associations for pneumonia could help researchers look for new treatments.
Find the complete study in the journal<a href="https://www.nature.com/articles/s41467-022-31473-3"> Nature Communications.</a>

A New Genetic Study on Pneumonia

A very large genetic study of insomnia has identified hundreds of genes associated with the condition that is also linked to such things as depression, anxiety, schizophrenia, as well as metabolic disorders.
The scientists who worked on the study suggest that the breadth of those links likely indicates that there are different genetic subtypes for the condition. It’s estimated that as many as<a href="https://pubmed.ncbi.nlm.nih.gov/28348990/"> 30 percent of adults</a> have insomnia, which is defined as an inability to fall asleep at least three times a week over several months.
<h6>Large Study </h6>
Published in the journal Nature Genetics the<a href="https://www.nature.com/articles/s41588-022-01124-w"> study</a> included data from more than 2.3 million people, more than half a million of whom reported having insomnia and the remaining 1.8 million without the condition who were used in this research as controls. 
This study almost doubled the size of the previous largest genome-wide association <a href="https://blog.23andme.com/23andme-research/genetics-of-insomnia-more-similar-to-psychiatric-conditions-than-to-other-sleep-traits/">study on insomnia</a> that was conducted by some of the same scientists. Danielle Posthuma, a professor at Vrije University in Amsterdam, again led it at Vrije University in Amsterdam.
Posthuma and her co-authors explained in this paper that the current work suggests that &#8220;for extremely polygenic traits such as insomnia, increasing sample size does lead to an increase in detected (single nucleotide polymorphisms), loci, genes, and pathways, providing more confidence in existing and novel mechanisms.&#8221;
<h6>Many Genes Involved</h6>
At the same time, the additional data in this study did not improve the predictive power for insomnia. This is in part due to the highly polygenic nature of insomnia, meaning that there are many, many genetic variants associated with the condition that have yet to be identified. Insomnia is estimated to be the third most polygenic trait behind major depressive disorder and educational attainment, according to the researchers for this study.
The study identified 289 genes involved in insomnia, but that total still only explains about 10 percent of the heritability of the condition. Some of the genes associated with insomnia appeared linked to metabolic or psychiatric conditions.
Other studies indicate that about<a href="https://pubmed.ncbi.nlm.nih.gov/18979946/"> three-quarters of adults</a> with depression suffer from insomnia. 
23andMe does not have a genetic health report on insomnia, but it does have a collection of reports on such things as <a href="https://www.23andme.com/topics/wellness/deep-sleep/">Deep Sleep</a>, <a href="https://www.23andme.com/topics/wellness/sleep-movement/">Sleep Movement</a>, and Wake Time in a “sleep hub” meant to look at how your genetics may play a role in the quality of your sleep.
You can read the full insomnia study in<a href="https://www.nature.com/articles/s41588-022-01124-w"> Nature Genetics.</a>

New Genetic Study on Insomnia

In late 2020, 23andMe launched a genetic study of systemic sclerosis, a rare autoimmune disease that results in the hardening and thickening of the skin and other organs.
Within 18 months, we’ve met our goal of recruiting more than 1,500 individuals with systemic sclerosis to participate in this study. We did this through online recruitment and with help from a collaboration with the Scleroderma Research Foundation, and our drug discovery collaboration partner GSK, who provided funding and expertise. 
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="210" height="210" src="https://blogcms.23andme.com/wp-content/uploads/2020/11/Scleroderma-Feed-Icon@3x.png" alt="" class="wp-image-28608" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/11/Scleroderma-Feed-Icon@3x.png 210w, https://blogcms.23andme.com/wp-content/uploads/2020/11/Scleroderma-Feed-Icon@3x-150x150.png 150w" sizes="auto, (max-width: 210px) 100vw, 210px" /></figure>
 
<h6>Recruiting to Study the genetics of systemic sclerosis</h6>
Simply reaching our recruitment goal so quickly is an important milestone.
Like many rare diseases — defined as conditions that affect<a href="https://rarediseases.info.nih.gov/about"> fewer than 200,000</a> individuals in the United States — there is currently no cure or effective treatment for systemic sclerosis. And like many rare diseases, the rarity of this condition makes it challenging for scientists to study. As with many of the more than 7,000 known rare diseases, it is often difficult to find enough people with a rare disease, or enough who are able to participate in research studies. Historically, research on these conditions has been limited and slow.
23andMe’s unique research model allows for online recruitment and participation, which makes it that much easier.
<h6>A snapshot of our research participants</h6>
While there is still much work to do, we want to mark this recruitment milestone. And as we close our recruitment and begin this next phase of the study, we’re sharing a little bit about those participating in our research.
In all, 1,594 people living with systemic sclerosis consented to participate in our research. Although we haven’t yet begun the study, we’ve begun to characterize the cohort of research participants and we’ve already learned a little bit from them.
The condition is more common among women; indeed, 95 percent of the participants in our study are female. We’ve learned that the median age of onset of symptoms among our participants is 35 for those with what’s called primary Raynaud’s phenomenon. For onset of other systemic sclerosis symptoms, the median age of onset is 38 among those participating in 23andMe’s study. 
Raynaud’s phenomenon is the most common symptom for those with systemic sclerosis.  It’s characterized by what’s called vasospasms or spasms of the blood vessels that are triggered by cold temperatures or stress. This can lead to discoloration of the fingers, numbness and pain. In some cases, it can also lead to ulcers on the fingers. (Just note that people who do not have systemic sclerosis can also develop Raynaud’s.)
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="584" height="598" src="https://blogcms.23andme.com/wp-content/uploads/2022/08/Sscl-Bar-Graph.png" alt="" class="wp-image-29978" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Sscl-Bar-Graph.png 584w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Sscl-Bar-Graph-293x300.png 293w" sizes="auto, (max-width: 584px) 100vw, 584px" /></figure>
 
<h6>Most Common Symptoms</h6>
To give readers a sense of how difficult systemic sclerosis can be for those living with it, we&#8217;re sharing some of the most common symptoms reported by our participants.
Almost half of participants, 48 percent, have had sores or ulcers on their fingers. Another serious symptom is called “interstitial lung disease,” essentially scarring of the lungs, and 30 percent of participants reported having this. Lung scarring can make it harder to breathe and get oxygen into your bloodstream.
About 14 percent of participants reported having pulmonary arterial hypertension, or high blood pressure caused by restrictive blood flow in the lungs. Finally, about 3 percent of participants reported having one of the most serious complications from systemic sclerosis, renal crisis, which can lead to renal failure or congestive heart failure. 
<h6>Studying the Genetics of Systemic Sclerosis</h6>
As our researchers begin the hard work of this study, they continue to focus on the goal that this work will generate genetic insights for potential treatments.
This study will allow our researchers to study systemic sclerosis at scale and allow those living with this condition to participate in research that could provide invaluable insight that may lead researchers to a future treatment discoveries.
While we know that about 70 percent of rare diseases are genetic, there is so much we don’t know about these conditions. Only about 5 percent of all rare diseases have approved treatments. But by working to uncover new genetic insights to conditions like systemic sclerosis, we hope to add to the list of approved treatments to address this unmet need. 
With the additional consent of participants in the study, we plan  to share the data from this study with qualified researchers from academia or biotech labs through the Database of Genotype and Phenotypes (<a href="https://www.ncbi.nlm.nih.gov/gap/">dbGaP</a>). This  repository is sponsored by the <a href="https://www.nih.gov/">National Institutes of Health (NIH)</a>. The NIH’s dbGaP archives and distributes data from studies investigating the relationship of genotype and phenotype in humans.

Recruitment Goal Met for Systemic Sclerosis Genetic Study

A new genetic study suggests drinking coffee during pregnancy does not negatively affect birthweight, nor does it increase the risk of a miscarriage, stillbirth, or premature birth.  
The<a href="https://academic.oup.com/ije/advance-article/doi/10.1093/ije/dyac121/6605011?login=false#358171832"> study</a>, by researchers at the University of Queensland in Australia and the University of Oslo, counters the advice often given during pregnancy to avoid caffeine. That advice was based on observational studies that did not separate coffee drinking from the harmful effects of behaviors like smoking, drinking alcohol, or poor nutrition.  

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="681" src="https://blogcms.23andme.com/wp-content/uploads/2018/10/coffee-beans-1024x681.jpg" alt="" class="wp-image-26590" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/10/coffee-beans-1024x681.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/10/coffee-beans-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/10/coffee-beans-768x511.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/10/coffee-beans-880x585.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/10/coffee-beans-1180x784.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/10/coffee-beans.jpg 1256w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>Randomized Stidy</h6>
But in this study the researchers focused solely on the effects of drinking coffee. 
 They used data from several sources, including UK Biobank and from 23andMe customers who consented to participate in research. Ideally, the researchers would have isolated the effects of drinking coffee by doing a randomized trial. This would have required recruiting a very large group of pregnant women and then requiring some to drink coffee, and the others would not be allowed to drink coffee. Then researchers would monitor the effect on their pregnancies. For several reasons, that study design is not feasible in this case. So instead, the researchers used Mendelian randomization to mimic a randomized trial. They did this by first looking at genetic variants associated with drinking coffee and then seeing if they also affect pregnancy outcomes.
Using this genetic analysis, the researchers found no causation between drinking coffee during pregnancy and pregnancy risks for miscarriage, stillbirth, or premature birth. 
<h6>Moderation</h6>
At the same time, the study only looked at a handful of adverse pregnancy outcomes, leaving the possibility that drinking coffee could affect other aspects of a baby’s development.
“For that reason, we don’t recommend a high intake during pregnancy, but a low or moderate consumption of coffee,”<a href="https://www.uq.edu.au/news/article/2022/06/genes-reveal-coffee-safe-during-pregnancy"> said Dr. Gunn-Helen Moen</a>, a lead researcher for the study.
This research used genetic data from the Coffee and Caffeine Genetics Consortium, the<a href="https://www.ukbiobank.ac.uk/"> UK Biobank</a>, the<a href="http://www.bristol.ac.uk/alspac/"> Avon Longitudinal Study of Parents and Children</a>, and customers from 23andMe who consented to participate in research.
The study was published in the<a href="https://dx.doi.org/10.1093/ije/dyac121"> International Journal of Epidemiology</a>.

New Study Suggests Coffee During Pregnancy May Be OK After All

A new genetic study may help those looking for ways to avert some of the troubling side effects of a common medication used to treat Parkinson’s disease.
Parkinson’s is sometimes treated with medication that increases dopamine activity in the brain. In some patients, that triggers impulsivity, such as compulsive gambling, shopping, eating, or hyper-sexuality.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-7843" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/cartoon-pills-300x285.png" alt="" width="300" height="285" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/11/cartoon-pills-300x285.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/11/cartoon-pills.png 478w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h2>Impulse Control Disorder </h2>
In a study published in the journal<a href="https://onlinelibrary.wiley.com/doi/10.1002/acn3.51569"> Annals of Clinical and Translational Neurology,</a> researchers have identified genetic variants in Parkinson’s patients at risk for that problem. Using genetic modeling could help identify patients who are more likely to develop impulse control disorder due to prescribed dopaminergic medications. 
Using machine learning and statistical techniques, the team was able to create a risk model to identify those at the highest risk. 
In the paper, the researchers suggest that this might ultimately be used to make it easier for physicians treating those with Parkinson’s disease to identify those who should be prescribed an alternative to medication that increases dopamine activity, like levodopa.
<h2>Risk Models for Drug Interactions</h2>
The study used data from about 5,700 individuals with Parkinson’s disease. Most of the data came from 23andMe Parkinson’s research participants who consented to participate, with the remainder coming from two other research cohorts, one at the University of Pennsylvania and the other at the Parkinson’s Progression Markers Initiative. 
The research involved two major steps. The first looked at genetic variants associated with impulse control disorder in people with Parkinson’s. Once they identified these variants, researchers used machine learning and statistical techniques to create a risk model. This helped them identify individuals who were more likely to develop impulse control disorder if the prescribed medication affected the dopamine activity in their brains.
In evaluating the model, the researchers said it performed better than similar <a href="https://www.nature.com/articles/s41397-021-00260-6">pharmacogenetic models</a> already used in prescribing anti-platelet drugs.
While dopaminergic drugs are very important and effective in treating motor control issues in Parkinson’s patients, impulse control disorder side effects are relatively common. In this study, n 20-30 percent of those treated with dopaminergic drugs experienced impulse control disorder.  
Applying this pharmacogenetic approach could be effective at identifying those individuals better served by using an alternative to dopaminergic medications. One of those alternatives is the drug levodopa, the researchers said.

Study On Side Effects of Parkinson’s Medication

There might be something to the saying, “you’ve got the music in you.”
A new genetic <a href="https://www.nature.com/articles/s41562-022-01359-x">study</a> in the journal Nature Human Behavior led by researchers at Vanderbilt University and 23andMe found more than 60 regions of the genome associated with beat synchronization, the ability to move in time with the beat of music. 
Many of the variants are in or near genes involved in neural function and early brain development. In addition, the researchers found that <a href="http://35.88.189.111/articles/rhythm-and-musical-traits">beat synchronization</a> shares some of the same genetic architecture involved in biological rhythms such as walking, breathing, and circadian patterns.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="562" height="161" src="https://blogcms.23andme.com/wp-content/uploads/2013/05/Melody.jpg" alt="" class="wp-image-18332" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/05/Melody.jpg 562w, https://blogcms.23andme.com/wp-content/uploads/2013/05/Melody-300x86.jpg 300w" sizes="auto, (max-width: 562px) 100vw, 562px" /></figure>
 
<h6>The Musical Glue</h6>
The study, the first large-scale genome-wide association study of a musical trait, is part of a broader effort by researchers at Vanderbilt to understand the relationship between language, music, and the brain. Scientists are using a variety of methods to better understand the associations between musicality and different cognitive, neurological, personality, and health traits.
Whether you find yourself singing and moving to the beat of your favorite song at a concert, singing a classic nursery rhyme with your toddler, or dancing along to the bass in a Zumba class, rhythm is so fundamental to music and automatic to our engagement with music that we usually don’t even think about it.
<div id="attachment_29887" style="width: 222px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-29887" class="size-medium wp-image-29887" src="https://blog-api.23andme.com/wp-content/uploads/2022/06/Gordon_Reyna_2_0-212x300.jpeg" alt="" width="212" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/Gordon_Reyna_2_0-212x300.jpeg 212w, https://blogcms.23andme.com/wp-content/uploads/2022/06/Gordon_Reyna_2_0-622x880.jpeg 622w, https://blogcms.23andme.com/wp-content/uploads/2022/06/Gordon_Reyna_2_0-768x1086.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/06/Gordon_Reyna_2_0-724x1024.jpeg 724w, https://blogcms.23andme.com/wp-content/uploads/2022/06/Gordon_Reyna_2_0-835x1180.jpeg 835w, https://blogcms.23andme.com/wp-content/uploads/2022/06/Gordon_Reyna_2_0-scaled.jpeg 1811w" sizes="auto, (max-width: 212px) 100vw, 212px" />Reyna Gordon, Ph.D, &#8211; (Photo: John Russell/Vanderbilt University)</div>
The ability to synchronize with the beat of rhythms in music is at the core of musicality in humans, whether it’s someone tapping along to music on the radio while driving to work, a group of indigenous people in the Amazon clapping or drumming in communal ritual, the ability to move in time a rhythm is ubiquitous.
“Rhythm is the quintessential glue holding together music, and music is a bond in all human cultures,” said Reyna Gordon, Ph.D., the senior author of the study and an associate professor and director of the Music Cognition Lab in the Department of Otolaryngology-Head &amp; Neck Surgery and the Vanderbilt Genetics Institute at Vanderbilt University Medical Center. Dr. Gordon co-led the study with fellow Vanderbilt associate professor Lea Davis, Ph.D.,  research instructor Maria Niarchou, Ph.D., and a team of international collaborators.
<h6>Music and Language </h6>
But rhythm and the ability to move in time with a beat are also about more than just making music; there is evidence that rhythm also supports language development and social communication. Furthermore, these new results are beginning to shed light on how our biology contributes to something as culturally unique and intricate as our musicality. Musical behaviors and preferences can be strongly influenced by both culture and genetics. 
Twin studies indicate that perhaps as much as 40 percent of the population’s variability in musical ability is due to genetic factors. But this is not a simple gene versus environment equation. For instance, genetics may influence certain traits by drawing individuals to seek out cultural or interpersonal experiences such as music training or music listening. 
Studying the complexity of those possible genetic influences on musical traits is only now possible with very large numbers of people participating in this research. 
<h6>Very Large Study</h6>
Rhythm and beat synchronization are fundamental components of music-making. The beat is the steady pulse that we feel in music, whereas the rhythmic patterns of music tend to be organized around that beat. Many different genes each have a small part to play in the genetic chorus that influences beat perception and synchronization.  
Finding those genetic associations for beat synchronization demands a large sample size. In this case, the researchers used data from more than 600,000 23ndMe customers who consented to participate in the research. They each answered a survey question about whether they had the ability to “clap in time with a musical beat.” 
From that data, researchers were able to identify 69 genetic loci associated with beat synchronization.
<h6>Online Methods</h6>
In a part of the study led by Dr. Nori Jacoby at the Max Planck Institute for Empirical Aesthetics in Frankfurt, the team did additional work with what are called phenotype validation experiments, to confirm that the single survey item was an accurate reflection of people’s beat synchronization skills. These experiments included an online test that required participants to tap a laptop in time with the beat of musical excerpts, and they also tested how people responded to differences in musical rhythms. These results helped to determine that the survey item was a good proxy for measuring beat synchronization and rhythm abilities, thus boosting confidence in the genetic association results. 
These new findings are thought to represent a major leap forward in our scientific understanding of the links between genomics and musicality. 
“Musical beat processing has intriguing links to other aspects of cognition including speech processing, and plays a key role in the positive effect of music on certain neurological disorders, including on gait in Parkinson&#8217;s disease,” said Aniruddh D. Patel, Professor of Psychology at Tufts University, an expert not involved in the study. 
Using such a large dataset allows researchers to find new insights into the biology and evolutionary foundations of musicality, Dr. Patel said.
“While recent years have seen a growth in neuroscientific and developmental work on beat processing, the current study takes the biological study of beat processing to a new level,” he added.
<h6>The Music We Speak</h6>
There are limitations to the study. For one, it only measures one aspect of musicality, and it cannot be used to predict individual musical ability. The study is also limited in that it was done primarily in people of European ancestry and does not capture potential beat synchronization genetic associations within other populations. Several members of the authorship team have also put forth <a href="https://psyarxiv.com/dyn6e/">a set of guidelines for ethically and socially responsible conduct of musicality genetics</a> and urge the research community and broader public to understand the broader social context of this work.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-29888" src="https://blog-api.23andme.com/wp-content/uploads/2022/06/Beat-GettyImages-561165061-300x240.jpg" alt="" width="300" height="240" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/Beat-GettyImages-561165061-300x240.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/06/Beat-GettyImages-561165061.jpg 661w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Still, the research is an important first step in understanding the genetics of musicality and has become a cornerstone for continued research by combining two unique resources of 23andMe and Vanderbilt University Medical Center’s BioVU research database. 
Using the variants identified in this study, Dr. Gordon and her team were able to create a statistical model, known as a polygenic score. They were then able to test the predictive ability of that beat synchronization polygenic score by applying it to musically active patients in the BioVU database in comparison with a control population. The findings showed that the polygenic score could distinguish the musically active patients from the controls, further validating the genetic association results.
The study has also allowed the team to explore a potential link with the evolution of language traits. So for example, Dr. Gordon, along with scientists from 23andMe, recently completed a study linking the genomic signatures of human <a href="https://pure.mpg.de/rest/items/item_3325775_2/component/file_3337272/content">beat synchronization and vocal learning in songbird</a>s. This study suggests convergent evolution between two very distinct traits: moving to a musical beat and learning complex vocal sequences. These research directions may pave the way to new knowledge on the origins of communication skills. This in turn adds a new dimension to emerging evidence that musical rhythm skills and language skills share some properties in the brain. 
You can read a helpful FAQ prepared by Dr. Gordon and her team <a href="https://www.vumc.org/music-cognition-lab/FAQbeatGWAS">here</a>.

We Got the Beat

By Catherine Weldon and Stella Aslibekyan, Ph.D.* 
In what is among the largest studies of long COVID to date, researchers at 23andMe confirm that it disproportionately impacts women, and being diagnosed with depression or anxiety is associated with a more than a two-fold increase in risk for the condition. The study also found that about half of those with persistent symptoms are experiencing them for six months or longer.  
Even after a year, more than 10 percent of those who reported being diagnosed with long COVID continue to have symptoms like brain fog, fatigue, and shortness of breath. It’s important to note long COVID refers to individuals who have health effects that linger weeks, months, or longer after COVID-19 infection.
In regression analyses controlling for age, sex, and ethnicity, 23andMe researchers found that those who reported that they had depression or anxiety prior to COVID-19 infection had a two-fold increase in the risk of being diagnosed with long COVID, and having a cardiometabolic disease was associated with a 90 percent higher risk of being diagnosed.  Cardiometabolic diseases include conditions such as high blood pressure, coronary artery disease, type 2 diabetes, and high cholesterol.
23andMe data also indicate that more than half of the participants saw no difference after vaccination. Of those who did see a difference, approximately twice as many people reported improvement rather than worsening of some or all symptoms. 
<h6>Confirms Some Previous Findings</h6>
Preliminary data from the unpublished study indicates that women are at least twice as likely to be diagnosed with long COVID compared to men even when controlling for age, ethnicity, and related health conditions. This contrasts with the overall breakdown of those infected with COVID-19, where<a href="https://link.springer.com/article/10.1007/s42399-020-00341-w"> men are much more likely</a> to be infected than women. Men are slightly more likely to die from the virus as well, according to a<a href="https://www.sciencedirect.com/science/article/pii/S0277953622000193#!"> recent Harvard study</a>.
The 23andMe study data is also consistent with<a href="https://www.clinicalmicrobiologyandinfection.com/article/S1198-743X(21)00629-7/fulltext"> other studies</a> that have found women are much more likely to develop long COVID. More than 78 percent of those diagnosed with long COVID in the study were females, compared to about 62 percent among those who reported not having experienced long COVID. The findings in our study are aligned with other studies, including a <a href="https://www.clinicalmicrobiologyandinfection.com/article/S1198-743X(21)00629-7/fulltext">study</a> led by researchers at the University of Milan that found that women were more than three times as likely to develop long COVID than men.
23andMe’s data also indicated that when compared with men, a larger percentage of women with long COVID appear to have symptoms that persist a bit longer, which is also consistent with<a href="https://www.liebertpub.com/doi/10.1089/jwh.2021.0411"> other smaller studies</a>. In addition, long COVID disturbs menstrual cycles; according to 23andMe’s data, about a quarter are reporting that they are still dealing with disruptions after a year. 
Beyond the disproportionate impact on women, those who have had the most severe cases of COVID are also at a much higher risk of developing long COVID. In the 23andMe study, researchers found that individuals with COVID who required hospitalization had a more than ten-fold risk of being diagnosed with long COVID compared to those who were not hospitalized when controlling for age, sex, and ethnicity. 
<h6>Very Large Study Cohort</h6>
Scientists still don’t understand what causes long COVID, nor how to best treat it. An effort to recruit patients to study the condition by the National Institutes of Health got off to a slow start, with the agency only recruiting about 1,300 people by late March, far short of their 40,000-patient goal.
The 23andMe study included data from more than 100,000 individuals who reported contracting COVID-19. Of those included in this study, more than 26,000 reported that they had experienced long COVID, and over 7,000 said they’d been diagnosed with it. This unpublished study is part of <a href="https://blog.23andme.com/tag/covid-19/">a series of studies</a> being conducted by 23andMe scientists since the beginning of the pandemic in 2020.
Among the areas of study is research on <a href="https://blog.23andme.com/23andme-research/23andme-covid-study-published/">the role blood type plays</a> in severity and susceptibility to the virus, and insights into the genetics that influence <a href="https://blog.23andme.com/23andme-research/reaction-to-covid-vaccine/">different reactions</a> to COVID-19 vaccines. Earlier this year, 23andMe published a study in the journal<a href="https://www.nature.com/articles/s41588-021-00986-w"> Nature Genetics</a> that identified genetic variants associated with the loss of smell or taste due to COVID-19. That paper offers more detail on the study, which identified variants near two olfactory genes — UGT2A1 and UGT2A2.

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Long-Haulers and Sex Differences
This latest study is part of an effort to better understand the so-called<a href="https://www.nature.com/articles/s41592-021-01145-z"> long haulers</a>: individuals with health effects that linger weeks, months, or longer after COVID-19 infection.
Why do some individuals continue to have symptoms long after the initial infection? Why are women more likely to develop long COVID than men, and what is the role of genetics in this?
While the 23andMe researchers found no genetic variants associated with developing long COVID, the higher rate of cases in women may be indicative of differences in hormonal levels, which are substantially rooted in genetics.
The sex differences do suggest biological underpinnings and can help elucidate them.  
Scientists know there are similar differences for other kinds of conditions. For example, women are much more likely than men to develop autoimmune conditions such as lupus or multiple sclerosis. Autoimmune conditions occur when the body’s immune system misfires and attacks healthy cells in the body. Females typically have two copies of the X chromosome, which has the largest number of immune-related genes. That in turn means that different immune responses are more pronounced in women.
Whether this explains the much higher incidence of long COVID in women has yet to be determined. But 23andMe researchers did find that about a third, or 32 percent, of those diagnosed with long COVID had some sort of autoimmune disease, compared to only about 20 percent among those who reported not having experienced long COVID. 
<h6>Serious Symptoms</h6>
<div style="float: right; text-align: justified; width: 315px; background-color: #eee; padding: 15px; margin-left: 10px;">
<ul>
<li style="font-weight: 400;" aria-level="1">Among the largest long COVID studies to date using self-reported data from more than 100,000 individuals consented to participate in research.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">Females are more than twice as likely to be diagnosed with long COVID compared to males when controlling for age, race/ethnicity, and related health conditions.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">Long COVID Symptoms linger past 12 months among at least 10 percent of those with long COVID.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">More than half of those with Long COVID had a history of depression, anxiety, or cardiometabolic disease prior to COVID-19 infection.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">Having a history of depression or anxiety was associated with more than a two-fold increase in the risk of being diagnosed with Long COVID.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">Having a cardiometabolic disease is associated with an approximately 90% higher risk of being diagnosed with long COVID.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">About a third of those who develop Long COVID have an autoimmune disease.</li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">More than half of the participants saw no difference in symptoms after vaccination. Of those who did, almost twice as many reported improvement in symptoms compared to those who reported worsening symptoms. </li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">Hospitalization for COVID led to a ten-fold increase in the risk of being diagnosed with long COVID. </li>
</ul>
<ul>
<li style="font-weight: 400;" aria-level="1">This unpublished study is part of <a href="https://blog.23andme.com/tag/covid-19/">a series of studies</a> being conducted by 23andMe scientists since the beginning of the pandemic in 2020.</li>
</ul>
</div>
Although trend lines are pointing downward for infections, hospitalizations, and deaths due to COVID-19, the impact of long COVID remains unknown. The condition is thought to affect as many as <a href="https://www.bmj.com/content/373/bmj.n1626">30 percent</a> of those who are infected with the virus.
23andMe’s study found that symptoms lasted from three months to more than a year, with some individuals continuing to suffer. The top symptoms– which the participants reported arose only after the COVID-19 infection– were brain fog, fatigue, and shortness of breath.
Among those diagnosed with COVID-19, even at six months about 34 percent of those diagnosed with the condition reported an inability to focus or concentrate associated with what’s termed “brain fog.” After a year, about 19 percent still had brain fog. After 12 months, about 14 percent reported having shortness of breath, and about 7 percent said they had heart palpitations.
<h6>What’s Next</h6>
There are a few limitations to our study that we should note. For one, this study relies on self-reported data from 23andMe consented research participants. As with other studies on long COVID, the diagnosis is still nebulous and highly variable, and the reports can be subjective. We include both information from those participants who reported that they were diagnosed with long COVID or simply reported that they had long COVID. 
Another important consideration is that 23andMe’s data is not representative of the U.S. population as a whole. That said, the prevalence of various symptoms is similar to that in the published literature. 
Future studies are warranted to continue documenting the natural history of long COVID over longer time periods. In addition to corroborating our findings, it is possible that future studies of even larger populations will find some genetic underpinnings of the reported symptoms, although the individual effect of each genetic factor is likely to be small. 
As people continue to deal with symptoms of long COVID, using studies like ours to better understand the illness will be increasingly important. Projecting over the millions of individuals worldwide who’ve been infected or are yet to be infected, the public health impact of long COVID is likely to linger for years to come. Understanding the underlying biology and associations may help as scientists wrestle with the best way to treat the condition.
<hr />
*Catherine is an associate scientist at 23andMe and Stella is a genetic epidemiologist at 23andMe.
<hr />
Editor&#8217;s note: Throughout this post we use the word women for simplicity, but the study was actually based on anyone with XX chromosomes. So &#8220;women&#8221; in our study may include people whose gender identity is different than the sex they were assigned at birth.

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Research — Page 11