<img loading="lazy" decoding="async" class="alignright wp-image-28208 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-300x300.jpg" alt="A image of the globe and the double helix to represent those who have opted into participate in research on COVID-19" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-1024x1024.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2020/04/1080x1080-COVID-IG-Copy-16.jpg 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />Scientists around the world are racing to understand COVID-19 and the novel coronavirus that causes the disease. Among the questions they&#8217;re asking: Why do most people who are infected show mild to moderate symptoms (or possibly no symptoms at all), whereas others develop severe disease?
We know that certain factors — like advanced age or underlying health conditions like heart disease and diabetes — can make someone more likely to develop severe symptoms, including <a href="https://blog.23andme.com/articles/study-on-pneumonia">pneumonia</a>. But even young, healthy people can develop severe symptoms and die from COVID-19. Why might that be?
Could genetics play a role?
With the help of our research participants, 23andMe is launching a research study to try to answer that question. Before we describe 23andMe’s planned research, here&#8217;s some of what is known about the role of genetics in other infectious diseases.
<h6>Human genetics plays a role in many infectious diseases</h6>
We know from <a href="https://www.nature.com/articles/nrg3114">past research</a> that genetics can influence a person&#8217;s susceptibility to different infectious diseases — including whether they&#8217;re infected and how severe their disease becomes.
For example:
<ul>
<li>Particular genetic variants in a gene called HBB can make people less susceptible to infection by the parasite that causes malaria. HBB contains instructions for making the hemoglobin protein that carries oxygen inside our red blood cells.</li>
<li>A particular genetic variant in a gene called CCR5 can protect people from HIV infection by preventing the virus from being able to enter certain T cells in our immune system. CCR5 codes for a protein that sits on the surface of those T cells.</li>
<li>People with a particular variant in the FUT2 gene are much less likely to be infected by norovirus. FUT2 codes for an enzyme that helps determine whether certain molecules are present on the surface of our gut cells.</li>
</ul>
In addition, genetic variants in HLA genes may explain the differences in response to several different conditions. This group of genes helps the immune system distinguish the body&#8217;s own proteins from proteins made by foreign invaders like viruses and bacteria. Studies have found that variants in these genes may help explain why HIV progresses more quickly in some people than others. Variants in the HLA genes may also influence why some people can clear hepatitis B infection and others don’t, instead ending up with a chronic disease. And variants in this same group of genes could offer insight into why some (but not all) people infected with dengue virus experience severe complications. In 2017, scientists at 23andMe published a <a href="https://www.nature.com/articles/s41467-017-00257-5">genetic study</a> that identified almost 60 genetic variants associated with susceptibility to one of 17 different infectious diseases, and many of those variants were in HLA genes.
<h6>What about COVID-19?</h6>
So, could genetics help explain why certain people develop severe COVID-19 and others develop only mild or undetectable symptoms?
It&#8217;s too early to say for sure, but some scientists think that&#8217;s likely the case. At least a couple of studies have started looking for clues.
For example, in order to get inside our cells, the virus that causes COVID-19 latches onto a human protein called ACE2. And scientists <a href="https://www.nature.com/articles/s41421-020-0147-1">identified</a> genetic variants in and near the ACE2 gene that could impact how much ACE2 protein is made, or how the protein functions. This could make it easier or tougher for the virus to slip inside a person&#8217;s cells and make them sick. In another study, scientists <a href="https://www.medrxiv.org/content/10.1101/2020.03.11.20031096v1">reported</a> that a person&#8217;s blood type — which is determined by the ABO gene — might influence their likelihood of being infected by the virus. While these preliminary observations are intriguing, more research in different populations and in larger groups of patients is needed to validate these and other findings.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;"><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-28040" src="https://blog-api.23andme.com/wp-content/uploads/2020/02/CDC-Image-of-Coronavirus.png" alt="" width="512" height="287" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/02/CDC-Image-of-Coronavirus.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/02/CDC-Image-of-Coronavirus-300x168.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" />
Coronavirus is a general term that includes many different (but related) viruses, including the one causing the current pandemic.
SARS-CoV-2 is the specific coronavirus in the news right now. SARS-CoV-2 stands for severe acute respiratory syndrome coronavirus 2, based on the symptoms it can cause. (The 2002-2003 SARS epidemic was caused by a virus called SARS-CoV.)
COVID-19 is the disease caused by the novel coronavirus. COVID-19 stands for coronavirus disease 2019 (the year the virus was first found in humans).
</div>
<h6>How 23andMe Research could make a difference</h6>
23andMe’s unique research model, with millions of customers consented to participate, offers our scientists a powerful tool for potential insight into the role genetics may play in explaining differences in the severity of the novel coronavirus.
One way to identify genetic variants that contribute to disease severity is a genome-wide association study or GWAS. In a GWAS, scientists compare the DNA of people who had severe symptoms to the DNA of people who had milder symptoms, or even no symptoms at all. Genetic variants that are more common in one of these groups of participants than the other represent genetic associations with COVID-19 severity.
And that&#8217;s just one question that <a href="https://research.23andme.com/covid19/">23andMe Research</a> hopes to answer. We&#8217;ll compare genetic variants in people who get very sick with variants in people who had milder symptoms or haven&#8217;t gotten sick. By identifying genetic variants that are more common in people who experienced severe disease, scientists may be able to better understand who&#8217;s most at risk. Perhaps even more importantly, these genetic studies can also help us gain new insights into how the novel coronavirus infects our cells and impacts our bodies. And those insights might give us clues to potential targets for new drugs or vaccines.
Learn more about 23andMe&#8217;s study <a href="https://blog.23andme.com/23andme-research/covid-19-genetic-study/">here</a>.
<hr>
<h6>References:</h6>
1) <a class="c-link" href="https://www.ncbi.nlm.nih.gov/pubmed/22310894" target="_blank" rel="noopener noreferrer" aria-describedby="slack-kit-tooltip">Chapman SJ et al. (2012). &#8220;Human genetic susceptibility to infectious disease.&#8221; Nat Rev Genet. 13(3):175-88.</a>
2) <a class="c-link" href="https://www.ncbi.nlm.nih.gov/pubmed/32133153" target="_blank" rel="noopener noreferrer" aria-describedby="slack-kit-tooltip">Cao Y et al. (2020). &#8220;Comparative genetic analysis of the novel coronavirus (2019-nCoV/SARS-CoV-2) receptor ACE2 in different populations.&#8221; Cell Discov. 6:11.</a>
3)<a class="c-link" href="https://www.ncbi.nlm.nih.gov/pubmed/28928442" target="_blank" rel="noopener noreferrer" aria-describedby="slack-kit-tooltip">Tian C et al. (2017). &#8220;Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.&#8221; Nat Commun. 8(1):599.</a>
4) <a class="c-link" href="https://doi.org/10.1101/2020.03.11.20031096" target="_blank" rel="noopener noreferrer" aria-describedby="slack-kit-tooltip">Zhao J et al. (2020). &#8220;Relationship between the ABO Blood Group and the COVID-19 Susceptibility.&#8221; medRxiv. https://doi.org/10.1101/2020.03.11.20031096</a> &nbsp;

23andMe Blog

23andMe Blog Team

Could genetics play a role in the severity of COVID-19?

During this global health crisis, 23andMe is activating its millions of consenting research participants to help contribute to our collective understanding of the new virus that causes COVID-19.
This week, 23andMe scientists began a study of COVID-19, to understand how genetics may influence the differences in severity of the disease among people.<img loading="lazy" decoding="async" class="aligncenter wp-image-28180 size-large" src="http://35.88.189.111/wp-content/uploads/2020/03/1200x628-COVID-blog-1024x536.png" alt="" width="1024" height="536" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/1200x628-COVID-blog-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/03/1200x628-COVID-blog-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/03/1200x628-COVID-blog-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/03/1200x628-COVID-blog-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/03/1200x628-COVID-blog-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/03/1200x628-COVID-blog.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
A person&#8217;s age, exposure, and underlying health determine much of these differences, but genetics also likely plays a role. We know that for <a href="https://www.nature.com/articles/nrg3114">other infectious diseases</a>, genetics can influence susceptibility, but what about the severity of symptoms?
<h6></h6>

<h6>How genetics might impact COVID-19</h6>
Our existing research platform allows us to conduct this study quickly and on a large scale. <img loading="lazy" decoding="async" class="alignright wp-image-28058 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2020/02/Screen-Shot-2020-02-24-at-9.32.29-AM-300x189.png" alt="" width="300" height="189" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/02/Screen-Shot-2020-02-24-at-9.32.29-AM-300x189.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/02/Screen-Shot-2020-02-24-at-9.32.29-AM-768x485.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/02/Screen-Shot-2020-02-24-at-9.32.29-AM-1024x646.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/02/Screen-Shot-2020-02-24-at-9.32.29-AM-880x555.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/02/Screen-Shot-2020-02-24-at-9.32.29-AM-1180x745.png 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
&#8220;We have been looking at how 23andMe can leverage its research platform to help better understand how humans might respond to this virus,&#8221; said Joyce Tung, Ph.D., 23andMe&#8217;s Vice President of Research. &#8220;Ultimately, we want to publish our research findings in order to help provide more insight on COVID-19 for the scientific community.&#8221;
23andMe scientists can quickly look for genetic variants that are more common among research participants who are sick with the virus, and see if there are genetic differences in those with the most severe symptoms.
<h6>The Study of COVID-19</h6>
Beginning this week, 23andMe hopes to enroll hundreds of thousands of 23andMe customers in the United States to participate in this study, which will include both individuals who have and have not tested positive for the virus.
The study, which will be conducted using online surveys, may also include contributions from those with family members that have experienced an infection. As with all our research, an external and independent ethics committee known as an institutional review board will oversee the work.
It’s critical to note this study will be longitudinal in nature. We will be asking people to participate in an initial baseline survey and inviting them back to take an additional survey on a monthly basis. This will enable us to collect data regarding new infections in the population should the outbreak continue to spread.
<h6>A Genome-Wide Association Study</h6>
Our scientists then will run a genome-wide association study. The purpose is to identify genetic variants associated with differences in the severity of the disease.
While we hope to gain insights from this research, there are no guarantees that we will find that genetics plays a significant role. In fact, the best possible outcome is that the pandemic decelerates, which could leave us unable to identify people with COVID-19, and would limit our ability to identify genetic associations.
However, if we can identify genetic variants associated with severe symptoms, scientists may be able to better understand who is more at risk due to genetic predispositions. These <a href="https://www.23andme.com/dna-health-ancestry/">genetic insights</a> could also give scientists a better understanding of how the novel coronavirus infects our cells and impacts our bodies.
<hr>
<h6>References:</h6>
1. <a class="c-link" href="https://www.ncbi.nlm.nih.gov/pubmed/22310894" target="_blank" rel="noopener noreferrer" aria-describedby="slack-kit-tooltip">Chapman SJ et al. (2012). &#8220;Human genetic susceptibility to infectious disease.&#8221; Nat Rev Genet. 13(3):175-88.</a>
2. <a class="c-link" href="https://www.ncbi.nlm.nih.gov/pubmed/28928442" target="_blank" rel="noopener noreferrer" aria-describedby="slack-kit-tooltip">Tian C et al. (2017). &#8220;Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.&#8221; Nat Commun. 8(1):599.</a>

A logo for 23andMe's COVID-19 Research Study

23andMe Customers Participate in COVID-19 Genetic Study

Last year marked the tenth anniversary of 23andMe&#8217;s Parkinson&#8217;s Disease Research Community. <img loading="lazy" decoding="async" class="alignright wp-image-22635 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />
This community has not only helped our scientists and others make serious advances in the study of Parkinson&#8217;s but it has also ushered in a new approach to genetic research.
As part of Parkinson&#8217;s Awareness Month, we wanted to look back over the now 11 years since we formed the Parkinson&#8217;s Research Community and note some of what we&#8217;ve accomplished.

<h6>Growing Quickly</h6>
Back in 2009, when 23andMe first announced its plan to enroll 10,000 people with Parkinson&#8217;s disease, 23andMe didn&#8217;t even have 10,000 customers. With the help from our collaboration with <a href="https://www.michaeljfox.org/">The Michael J. Fox Foundation</a> (MJFF) and the Parkinson&#8217;s Institute, however, the company met its goal within five years. That milestone was just the first of many, as the community has helped power relevant research and insights into the disease.
Having so many people living with Parkinson&#8217;s participating in our research has meant that 23andMe&#8217;s genetic data repository on Parkinson&#8217;s is materially larger than anything that came before. Now it is by far the world&#8217;s largest cohort of its kind for Parkinson&#8217;s disease research. Now is a great time to reflect on some of our important discoveries and to remember that none of it would have been possible without the active participation of the 23andMe research participants and the dedication of scientists within and outside of 23andMe.
<h6>Some Milestones</h6>
Here are a few highlights:
<ul>
<li>To date, our researchers and collaborators discovered 90 genetic variants associated with the disease. These findings give scientists potential pathways for future research and insight into possible new drug targets to treat Parkinson&#8217;s.</li>
<li>23andMe researchers and collaborators have published 18 papers in peer-reviewed publications, including four in 2020 alone. Among those papers are new findings around <a href="https://www.biorxiv.org/content/10.1101/604033v1">putative causal risk factors</a> for Parkinson&#8217;s, genetic variants that influence the age of onset for Parkinson&#8217;s, and a genome-wide association study that was paired with single-cell gene expression data to help <a href="https://www.biorxiv.org/content/10.1101/528463v2">identify cell types</a> that are important for understanding the causes of Parkinson&#8217;s.</li>
<li>23andMe researchers have identified more than 100 phenotypic — or non-genetic traits or characteristics — associations with Parkinson&#8217;s, offering the potential of earlier detection of the disease.</li>
<li>23andMe researchers, in collaboration with scientists from The Michael J. Fox Foundation, are also pioneering novel ways of collecting and analyzing data to gain deeper insight into the disease. Among these new datasets is one, collected by 23andMe researchers, looking at <a href="https://blog.23andme.com/23andme-research/update-23andme-parkinsons-disease-research/">off-label drug use among Parkinson&#8217;s patients</a>. This is a practice by which doctors use medication approved by the FDA for one condition to treat other conditions for which the medication is not yet approved.</li>
<li>The Michael J. Fox Foundation launched <a href="https://foxinsight.michaeljfox.org/">Fox Insight</a>, an online clinical study to crowdsource data from people with and without Parkinson’s. Through a collaboration with 23andMe, eligible participants can also access the 23andMe Health + Ancestry Service and add their genetic information to the study at no cost. To date, more than 40,000 people are registered in the study — with the goal of recruiting hundreds of thousands more. And more recently, MJFF launched <a href="https://foxden.michaeljfox.org/insight/explore/insight.jsp">Fox DEN,</a> Fox Insight’s online portal to provide qualified Parkinson&#8217;s researchers access to its de-identified data.</li>
<li>We&#8217;ve also recently completed a small-scale pilot study looking at the gut and oral microbiomes of people with Parkinson&#8217;s. We plan to follow this up with a much larger study later this year including healthy controls.</li>
<li>In the past year, 23andMe’s Parkinson’s Disease Research strategy has expanded to include participants who are at increased risk of developing Parkinson’s disease. By participating in this research, people without Parkinson’s disease can help researchers better understand the factors that influence why some people develop Parkinson’s disease. This could help contribute to the development of new interventions and treatments to prevent or slow the progression of the disease. This expansion of research was kicked off with the launch of the Parkinson’s Impact Project, which focuses on individuals that carry the LRRK2 G2019S variant. 23andMe plans to expand research efforts to other at-risk cohorts in the near future.</li>
<li>As part of the Parkinson’s Impact Project, we kicked off enrollment of LRRK2 G2019S carriers, both with and without Parkinson’s disease, into the University of Rochester’s innovative telemedicine study, VALOR-PD.</li>
</ul>
<h6>A Model for 23andMe Research</h6>
<a href="https://www.23andme.com/pd/">23andMe&#8217;s Parkinson&#8217;s Research Community</a> is unique in that it allows for ongoing engagement with participants. In addition, we see that customers are also eager to take an active role. Because these individuals are so engaged, scientists are better able to track changes and understand the progression of Parkinson&#8217;s, as well as nimbly add new dimensions to their research. It may even help in identifying potential participants in clinical studies and accelerate the pace of drug development.
Beyond the participants in the community, 23andMe&#8217;s Parkinson&#8217;s disease research is more potent because of the millions of 23andMe customers who, while not part of the community, opt-in to participate in 23andMe Research. Having such a large number of &#8220;controls&#8221; is vital for researchers.
By leveraging online tools, computational know-how, engaged customers, and massive amounts of both phenotypic and genetic data, 23andMe has pioneered a new way of conducting genetic research over the past ten years. 23andMe&#8217;s ambitious efforts around Parkinson&#8217;s disease, also helped the company create the framework for how it, and now others, approach genetic research into other conditions.
There is no other study cohort with the scale and diversity of 23andMe, which has millions of participants who are both engaged and interested in contributing to research.
<h6></h6>

23andMe’s Parkinson’s Research Community, More than a Decade of Discovery   

An international team of researchers discovered previously unknown genetic mechanisms that lead to myopia, or nearsightedness, including new associations with circadian rhythm.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/myopia-300x169.jpg" alt="" class="alignright wp-image-26222 size-medium" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia-1180x663.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/05/myopia.jpg 1366w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Led by scientists at King’s College London, researchers from University College London, Kaiser Permanente, and 23andMe identified three ways that genetics plays a role in myopia, according to the study published in the journal <a href="https://www.nature.com/articles/s41588-020-0599-0">Nature Genetics</a>.
“Myopia is an amazingly complex disorder,” <a href="https://www.kcl.ac.uk/news/researchers-discover-genetic-processes-determine-short-sightedness">said Dr. Pirro Hysi</a>, the lead author of the study and a researcher at King’s College London’s School of Life Course Sciences. “For the first time, we now have enough of the jigsaw pieces that the biology is becoming clear.” 

<h6>Association with Circadian Rhythm</h6>
Myopia, or nearsightedness where far away objects look blurry, affects more than a third of adults in both the UK and the United States. And while researchers have long known that both genetics and environment influence why someone develops myopia, this very large study was able to uncover some unexpected biology. The study found that genes involved in the circadian rhythm — the inner biological clock regulating our 24-hour long sleep and wake cycles — could be an important factor. 
“Changes in the day and night cycles are a possible explanation for the previous observations that myopia is more common in those who spend less time outdoors,” said Professor Jugnoo Rahi, from University College London’s Great Ormond Street Institute of Child Health.
In addition, researchers found overlapping associations with genes that play a role in pigmentation of the eyes, hair, and skin. Scientists had previously found that some genetic disorders that affect pigmentation also caused changes to the back of the eye that resulted in more severe myopia, but the strength of the association found in this study was surprising, said to <a href="https://spotlight.kaiserpermanente.org/genetics-of-near-sightedness/">Eric Jorgenson</a>, Ph.D., an investigator with the Kaiser Permanente Northern California Division of Research and a co-author of the study.
&nbsp;
<h6>Predictive Model</h6>
To make these findings, researchers used data from more than half a million individuals from the UK Biobank, Kaiser Permanente and 23andMe customers who consented to participate in research. Drawing on this very large dataset, the researchers were able to analyze thousands of genetic variants across more than 450 genes. 
Along with the association with genes involved with circadian rhythm, the researchers found an association with the mechanisms by which light signals are transmitted by the retina in the eye to the brain. 
In addition, the many genetic variants the researchers found that are associated with myopia, could be used to better predict nearsightedness. A genetic model based on the identified DNA variants successfully predicted up to 75 percent of myopia in the participants tested.

New genetic associations for nearsightedness

Early puberty among boys is associated with shorter lifespans, according to a new genetic study by scientists at the University of Cambridge. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/03/Teenage-Boys-.jpg" alt="" class="alignright wp-image-28161 size-medium" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/Teenage-Boys-.jpg 509w, https://blogcms.23andme.com/wp-content/uploads/2020/03/Teenage-Boys--300x200.jpg 300w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Published this week in <a href="https://www.nature.com/articles/s41467-020-14451-5">Nature Communications</a>, the study also identified more than 76 genes and gene regions that influence the timing of puberty in boys.
<h6> BMI and Hair Color</h6>
Some of those genetic associations are also linked with measures of obesity, body mass index (BMI), and hair color. The study found that men with red, dark brown and black hair were more likely to have gone through puberty earlier than other men.
 
“The link between early puberty and shorter life expectancy may be partly explained by its negative impact on cardiometabolic health and diseases such as type 2 diabetes,” said co-first author<a href="http://www.mrc-epid.cam.ac.uk/people/felix-day/"> Dr. Felix Day</a> from the<a href="http://www.mrc-epid.cam.ac.uk/blog/genetics-early-male-puberty-shorter-lifespan/"> MRC Epidemiology Unit at the University of Cambridge</a>. “If so, then finding ways to prevent early puberty could help.”
 
<h6>Puberty Timing in Men and Women </h6>
Day is part of a team of researchers who have been studying puberty timing both in men and women. Previous studies have found shared genetic associations between both sexes for the timing of puberty.
 
Traditionally it has been more difficult to study this life stage in boys. As such, most of our previous understanding of the genetic influence on puberty came from studies of women. Studying puberty in women and girls is often easier because it is often easier for a girl to recall her period. For boys remembering milestones that mark puberty like “<a href="https://www.nature.com/articles/ncomms9842">voice breaking</a>” is often harder to recall. A recent large-scale study of the DNA of 370,000 women identified 389 independent genetic associations. Those associations account for approximately one-quarter of the estimated heritability for puberty.
 
<h6>Longterm Health</h6>
Up until now, genetic studies of puberty timing in men are much fewer and smaller in scale. For this study, the scientists analyzed data from more than 200,000 men of European ancestry. To do that they included data mostly from the UK Biobank, but also data from 23andMe customers who consented to participate in research.   
 
While the associations with BMI may in part explain the link with shorter lifespans, the link with hair color is less clear. Researchers believe the hair color association points toward a connection with a common set of hormonal regulators in the brain. Those regulators play a role in several different traits. 
 
“Our most surprising finding was that some of the genes that regulate puberty timing in boys and girls also determine hair color,” said Dr. John Perry, a senior author of the paper who is also at the MRC Epidemiology Unit.
 
The finding highlights “an interesting common set of hormonal regulators in the brain that regulates both of these seemingly diverse traits,” Perry said.

Study Finds Health Impact for Early Puberty in Boys

In the largest genetic study of its kind, researchers at Indiana University have identified new genetic associations with squamous cell skin cancer.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/discover_data-e1489600524787.png" alt="" class="size-full wp-image-25113 alignright" width="200" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/discover_data-e1489600524787.png 200w, https://blogcms.23andme.com/wp-content/uploads/2017/03/discover_data-e1489600524787-150x150.png 150w" sizes="auto, (max-width: 200px) 100vw, 200px" />
The study, involving data from more than 680,000 individuals, including 20,000 people with squamous cell carcinoma, identified new genetic variants associated with the condition. 
The study was a meta-analysis, meaning it included data from many different studies, including data from about 280,000 23andMe customers who consented to participate in research.
<h6>Skin Pigmentation</h6>
While confirming previous findings that genes associated with skin pigmentation are associated with squamous cell cancers, the study also found some additional genes that are associated with cancer progression and immune response, among other things. 
The study identified eight new genetic variants associated with squamous cell cancer, bringing the total known variants associated with this type of non-melanoma skin cancer to 22.
&#8220;We can certainly say there is some genetic overlap between squamous cell carcinoma, basal cell carcinoma, and melanoma &#8212; the three major types of skin cancer &#8212; but we also found some genes that are specific for squamous cell carcinoma,&#8221;<a href="https://www.sciencedaily.com/releases/2020/02/200218182206.htm"> said Jiali Han</a>, Ph. D, the lead author of the paper, and a professor and researcher at Indiana University’s School of Medicine.
<h6>Non-Melanoma</h6>
Squamous cells and basal cells are also known as non-melanoma skin cancers. Both usually respond to treatment and rarely spread to other parts of the body, according to the National Cancer Institute. Melanoma is more aggressive, however, and can spread to other parts of the body if it&#8217;s not diagnosed early. Having fair skin, freckles, blue eyes, and brown hair are also risk factors for squamous cell skin cancer.
The research is published online in<a href="https://www.nature.com/articles/s41467-020-14594-5#Sec2"> Nature Communications</a>.
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New Genetic Research on Skin Cancer

This week we continue to follow the spread of the coronavirus. There is so much great reporting including what is one of the <a href="https://medium.com/@tomaspueyo/coronavirus-act-today-or-people-will-die-f4d3d9cd99ca">best overviews that we&#8217;ve seen</a> of the numbers and what they all might mean. 
Like most everyone, we will continue to follow the coverage of the outbreak, including an interesting illustration of how the virus hijacks cells that ran this week. We&#8217;re also reading up on some new research on the first migrants to the Americas, Neanderthal children, an experimental drug for Huntington&#8217;s, and a book about DNA testing upending a writer&#8217;s family.

Check them out.
<h6>Earliest Americans</h6>
Our understanding of the populating of the Americas is continuing to expand. The first people to reach the Americas may have come by sea, according to the latest research. They may have <a href="https://www.sciencemag.org/news/2019/08/first-people-americas-came-sea-ancient-tools-unearthed-idaho-river-suggest">arrived 16,000 years ago</a> or 3,000 years earlier than we previously believed. According to a study published recently in Science, radiocarbon dating of charcoal and bone fragments found along an Idaho river are altering what we once thought of the earliest Americans. In essence, they likely came by sea and then up rivers to populate inland areas. Previously scientists believed that the Clovis people were the first to populate the Americas, arriving about 13,000 years ago.
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<h6>Brutish, Short and Cold</h6>
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/05/neanderthal-300x300.png" alt="" class="alignright wp-image-25340 size-medium" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/05/neanderthal-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/05/neanderthal-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2017/05/neanderthal-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2017/05/neanderthal-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2017/05/neanderthal-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2017/05/neanderthal.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" /> Life may or may not have been nasty, brutish, and short of Neanderthals, but new research shows that it was indeed <a href="https://advances.sciencemag.org/content/4/10/eaau9483">cold and challenging</a>. Researchers from the University of Brisbane in Australia used the enamel of teeth recovered from the bones of two Neanderthal children excavated from a cave in France to piece together some details of their lives. Published in the journal Science, the study found that these children endured harsher winters when compared to teeth of modern human children who lived in Europe about 5,000 years ago. The Neanderthal children were also exposed to lead, which makes this study the <a href="https://www.sciencemag.org/news/2018/10/neanderthal-children-shivered-and-suffered-ancient-europe">earliest known documentation of lead exposure </a>among hominins. 
<h6>Haunted by a Gene</h6>
In a profound article in the<a href="https://www.nytimes.com/2020/03/10/health/huntingtons-disease-wexler.html?utm_source=STAT+Newsletters&#038;utm_campaign=35e3fb3f4b-MR_COPY_01&#038;utm_medium=email&#038;utm_term=0_8cab1d7961-35e3fb3f4b-129845433"> New York Times</a>, the reporter Denis Grady tells the story of Nancy Wexler, Ph.D., a noted researcher, and professor of neuropsychology at Columbia University. Wexler has been studying Huntington&#8217;s, a rare and devastating fatal disease. Wexler saw the illness claim her mother&#8217;s life. That pushed her to research the illness, and over the last few decades, she&#8217;s been involved in research of an extended Venezuelan family with Huntington&#8217;s. More recently she&#8217;s revealed that she too suffers from the condition. Her work and the work of others have helped to contribute to the development of an experimental drug by Roche to treat the disease. Her story is also included in a segment of the PBS documentary<a href="https://www.pbs.org/video/nancy-wexler-a-huntingtons-odyssey-u4bvln/"> The Gene: An Intimate Histor</a>y airing in April.
<iframe loading="lazy" width="512" height="332" src="https://player.pbs.org/viralplayer/3039485164/" frameborder="0" marginwidth="0" marginheight="0" scrolling="no" seamless="" allowfullscreen="allowfullscreen"></iframe>
<h6>Lost Family</h6>
Regardless of whether or not you’ve taken a DNA test, it’s no secret that taking a DNA test has changed everything for many. <a href="https://www.nytimes.com/2020/03/03/books/review/lost-family-libby-copeland.html">The New York Times</a> published a review this past week on a new book called “Lost Family: How DNA testing is upending who we are,” where author Libby Copeland explores the consequences &#8212; intended or not — of people’s decision to send in saliva samples to have their DNA tested. 
<h6>Hijackers<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/02/CDC-Image-of-Coronavirus-300x168.png" alt="" class="alignright wp-image-28040 size-medium" width="300" height="168" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/02/CDC-Image-of-Coronavirus-300x168.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/02/CDC-Image-of-Coronavirus.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /></h6>
In a series of fascinating graphic illustrations, <a href="https://www.nytimes.com/interactive/2020/03/11/science/how-coronavirus-hijacks-your-cells.html">The New York Times</a> depicts the process of how the spiky-looking novel coronavirus hijacks cells, inserts a snippet of its viral RNA and then causes the infected cell to spread millions of copies of the virus into the human body. But the explainer ends on a hopeful note: The last visual shows how soap molecules destroys the virus by prying it apart.
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Earliest Americans, Lost Families and a Haunting Gene

By Jey McCreight &amp; Ava Daniel
To honor Women’s History Month, 23andMe is sharing stories of a few female scientists who contributed to the field of genetics, each of whom made their mark despite great societal and institutional obstacles.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-28112" src="https://blog-api.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost-300x157.jpg" alt="" width="300" height="157" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost-300x157.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost-768x402.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost-1024x536.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost-880x461.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost-1180x618.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/03/WHM-BlogPost.jpg 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Nowadays most people have heard of <a href="https://en.wikipedia.org/wiki/Rosalind_Franklin">Rosalind Franklin</a>, the X-ray crystallographer who along with Watson and Crick famously contributed to the discovery of the double-helix structure of DNA. But for years her contribution was not recognized. It took a concerted effort to draw attention to her important contribution, making her a classic example of the hidden woman in science.
The reality is that women have been contributing to scientific research for hundreds of years, but institutionalized sexism has long prevented them from getting the credit they deserve. The field of genetic research is no exception. Here we would like to do our part in setting the record straight by highlighting some of the women who made important discoveries that built the foundation for modern genetics research.

<h6><a href="https://en.wikipedia.org/wiki/Janaki_Ammal">Janaki Ammal, Ph.D.</a> (1897-1984) </h6>
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24284" src="https://blog-api.23andme.com/wp-content/uploads/2016/09/Microscope-Icon-192x300.jpg" alt="" width="192" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/09/Microscope-Icon-192x300.jpg 192w, https://blogcms.23andme.com/wp-content/uploads/2016/09/Microscope-Icon.jpg 456w" sizes="auto, (max-width: 192px) 100vw, 192px" />An Indian botanist and cytologist who studied the variation in chromosome number, or ploidy, across a wide range of garden plants. This led to many insights into how species and varieties of plants evolved. She was the first woman to attain a Ph.D. in botany in the US, and the Janaki Ammal Award of Taxonomy was created in 1999 to encourage students and scholars to pursue this field of work.
<h6><a href="https://en.wikipedia.org/wiki/Charlotte_Auerbach">Charlotte Auerbach, Ph.D.</a> (1899-1994)</h6>
A German Jewish geneticist who was a pioneer in studying what causes genetic mutations. She authored a total of 91 papers and was a Fellow of the Royal Society of Edinburgh and the Royal Society of London. She was also a recipient of the 1976 Darwin Medal.
<h6><a href="https://en.wikipedia.org/wiki/Martha_Chase">Martha Chase, Ph.D.</a> (1927-2003)</h6>
An American geneticist credited with confirming DNA as the genetic material of life. She and Alfred Hershey created and performed the notable Hershey-Chase experiment, which proved that DNA, not protein, held and transmitted genetic information. Hershey was awarded a Nobel Prize for the achievement, but Chase was not.
<h6><a href="https://en.wikipedia.org/wiki/Marie_Maynard_Daly">Marie Maynard Daly, Ph.D.</a> (1921-2003)</h6>
An African American biochemist. She was the first Black woman to earn a doctorate in biochemistry in the U.S. She is most notable for her research involving the creation of proteins, as well as histones, which are the proteins that help package DNA into chromosomes. Watson cited Daly’s research as having contributed to research into the structure of DNA.
<h6><a href="https://en.wikipedia.org/wiki/Margaret_Oakley_Dayhoff">Margaret Oakley Dayhoff, Ph.D.</a> (1925-1983)</h6>
An American physical chemist and pioneer in the field of bioinformatics. She was one of the first scientists to integrate mathematics, computation, and biochemistry. She is known for originating point accepted mutations (PAM) and creating the one-letter code for amino acids &#8211; those As, Ts, Cs, and Gs.
<h6><a href="https://en.wikipedia.org/wiki/Esther_Lederberg">Esther Lederberg, Ph.D.</a> (1922-2006) <img loading="lazy" decoding="async" class="alignright size-medium wp-image-171" src="https://blog-api.23andme.com/wp-content/uploads/2008/04/23chromosomes1-300x214.jpg" alt="" width="300" height="214" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/04/23chromosomes1-300x214.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/04/23chromosomes1.jpg 435w" sizes="auto, (max-width: 300px) 100vw, 300px" /></h6>
An American microbiologist who pioneered the field of bacterial genetics. She developed the microbial technique of replica plating, which can be used to investigate antibiotic resistance. Lederberg also discovered the ? bacteriophage, a virus frequently used as a tool in genetics experiments, as well as bacterial F-plasmid, a piece of DNA that gives bacteria the ability to transfer DNA to each other. She also founded and directed the Plasmid Reference Center at Stanford University.
<h6><a href="https://en.wikipedia.org/wiki/Mary_F._Lyon">Mary Frances Lyon, Ph.D.</a> (1925-2014)</h6>
A British geneticist best known for her discovery of X-chromosome inactivation. This is a process by which one X chromosome is inactivated in some female mammals, including humans. <a href="http://www.bio.miami.edu/dana/dox/calico.html">Calico cats</a> are a fantastic visual representation of the phenomena. A Cambridge graduate, she was the recipient of over a dozen notable awards in the field of genetics for her work.
<h6>
<a href="https://en.wikipedia.org/wiki/Barbara_McClintock">Barbara McClintock, Ph.D.</a> (1902-1992)</h6>
An American maize cytogeneticist who discovered transposable elements. These are DNA sequences that can change position within a genome, and their discovery helped illustrate how genes affect physical characteristics. McClintock also demonstrated fundamental genetic ideas like recombination, crossing-over, and the role of telomeres and centromeres. She is the only woman who has received an unshared Nobel Prize in Physiology or Medicine.
<h6><a href="https://en.wikipedia.org/wiki/Ruth_Sager">Ruth Sager, Ph.D.</a> (1918-1997)</h6>
An American geneticist known for pioneering the field of cytoplasmic genetics. She is credited with discovering the transmission of genetic traits through chloroplast DNA, which is found in plants. She also conducted groundbreaking cancer genetics research on tumor suppressor genes in the early 1970s.
<h6><a href="https://en.wikipedia.org/wiki/Nettie_Stevens">Nettie Stevens, Ph.D.</a> (1861-1912)</h6>
An early American geneticist credited with the discovery of sex chromosomes (X and Y). She was the first American woman acknowledged for her contributions to science. Her work expanded the fields of modern genetics, cytology, and embryology.
Know of any other women in the realm of scientific advancement? Join the conversation by commenting below.

Jey McCreight

Women Who Advanced Genetic Science

Much like when I hesitated over opening my health results, I, surprisingly, also felt a mix of nerves and anticipation about learning my ancestry results. 
After all, DNA has the power to bust through family myths and long-held identities of who we are. 

<h6>Opening Up My Ancestry Results</h6>
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/03/Amanda-Percentages.png" alt="" class="alignright wp-image-28118 size-full" width="283" height="512" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/Amanda-Percentages.png 283w, https://blogcms.23andme.com/wp-content/uploads/2020/03/Amanda-Percentages-166x300.png 166w" sizes="auto, (max-width: 283px) 100vw, 283px" />I was raised knowing I had deep roots in the American South and German ancestors that moved from Prussia to Buffalo, NY in the 1800s. But mostly, I was raised passionately Scottish. How Scottish? My parents took photos of my brother and me as babies in wee kilts. My brother went to a bagpipe camp and played in a bagpipe band. We helped organize the local Highland Games and we even made a pilgrimage to Scotland to view headstones and church plaques that had our last names carved into them. 
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Fortunately, my 23andMe Ancestry Composition results confirmed that I was indeed partly Scottish, but it also showed I had an equal percentage of English, German, and Irish ancestry. There were even small amounts from regions in Scandinavia,  Spain, and Portugal, as well as western Asia and northern Africa. 
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I was surprised to see that my 23andMe is even able to pinpoint the very regions in some countries that my genetic ancestors most likely lived as well as a timeline of when ancestors lived in those countries. 
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Indeed, the Scottish and German ancestors were the most recent immigrants to America so in some ways, it made sense that those cultural identities held the most weight in my family lore. But, having never identified with the other heritages felt like a slight to those branches of the family tree. There is a unique satisfaction in having a more complete picture.
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<h6>My DNA Relatives</h6>
As my DNA had revealed surprises in where my family is from, I braced myself to learn who I was related to via the site’s DNA Relatives feature. 23andMe even warns you about this before you opt-in to participate in DNA Relatives, letting you know you might learn something unexpected.
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My results didn’t reveal any family secrets, fortunately. They did, however, help us solve one family mystery. More on that in a minute.
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DNA Relatives connects you to other 23andMe customers, who have also opted-in and with whom you share DNA, looking at how much DNA you share and the length of the segments of DNA, 23andMe can predict how closely you are related. 
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But beyond the first few close family members, I knew on my DNA Relatives list, 23andMe matched me to literally hundreds of much more distant relatives, I don’t know at all. I recognized hardly any last names. 
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But I wanted to learn more about these genetic cousins, so starting with those who shared the most DNA with me, I clicked through names in the hopes that they had filled out their profiles, listing birthplaces or surnames I might recognize.
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In one profile, I discovered someone who had listed the last name I’d heard before. It was a name that was bounced around in family discussions as the possible last name of my great-grandmother who was adopted. Sure enough, my DNA relative listed my nana’s birthplace as a birthplace for his family members. 
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I messaged him through 23andMe and it turns out his great-grandfather and my great-grandmother were brother and sister. He even had photos of the two together, arm and arm in front of their childhood home as adults. We had always assumed that she had no ties to her birth family after what was likely a traumatic separation from her parents. But clearly, that wasn’t the whole story. It gave me joy learning that she and her brother had had a relationship during their adulthood. 
<h6><img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/03/Amanda-Timeline.png" alt="" class="aligncenter wp-image-28117" width="600" height="220" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/Amanda-Timeline.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/03/Amanda-Timeline-300x110.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" /></h6>
<h6>Exploring More</h6>
Within the first week of opening my results, other DNA relatives seeking answers to mysteries in their own family trees were sending me messages. Just like me, they were looking for information to fill in the connections in their family trees. One woman, who said a certain branch of her family refused to accept her as a relative, was able to find a common ancestor with me that proved her relation to them.
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As a result of these discoveries, and the rush of finding answers to mysteries that may have endured for centuries, I began pulling down old family bibles that listed births, marriages, and deaths to paint a fuller picture of extended family trees. I soon fell down the rabbit hole of genealogical research – finding evidence of both slave owners and abolitionists, loyalists and patriots fighting against each other in the Revolutionary War. I know from our own family stories that we have ancestors who were members of the original 13 colonies as well as others who immigrated through Ellis Island. 
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Some believe DNA testing might be used as a way to further an “us vs. them” mentality. But what I found was quite the opposite. I suddenly felt related to everyone and living in a world where everyone feels like family is a good feeling. 
Amanda McCorquodale is a freelance writer. Her work has appeared in Gourmet, Miami Magazine and Mental Floss. She previously worked as an associate editor at the Huffington Post and as an Arts and Culture Editor at the Miami New Times. She lives in New York with her family. This is the third and last part of the series. You can read <a href="https://blog.23andme.com/23andme-and-you/23andme-how-to/taking-the-leap-into-my-dna-part-i/">Part I here</a>, and <a href="https://blog.23andme.com/23andme-customer-stories/taking-a-leap-into-my-dna-part-ii/">Part II here.</a>

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