Researchers at 23andMe, Sweden’s Karlolinska Institute, and the University of Geneva Medical School have identified new genetic associations for blood clots, one of the leading causes of death worldwide.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="223" src="http://35.88.189.111/wp-content/uploads/2009/03/bloodtravel1-300x223.jpg" alt="" class="wp-image-3194" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodtravel1-300x223.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodtravel1.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



On top of finding these genetic associations, this new paper also offered a model for conducting future research into this difficult-to-study condition by using self-reported data from 23andMe research participants answering questions about their own history of blood clots.



“Using these datasets for research is becoming one of the most powerful tools for the discovery of common variants for a wide range of disease-related phenotypes,” according to <a href="http://hmg.oxfordjournals.org/content/early/2016/03/03/hmg.ddw037.abstract">the paper</a>, published earlier this year in the journal Human Molecular Genetics.







<h2 class="wp-block-heading" id="h-venous-thromboembolism">Venous Thromboembolism</h2>



Blood clots or venous thromboembolism, which include both deep-vein thrombosis and pulmonary embolisms, are relatively common, but studying them has been difficult. This is in part because it is hard to gather enough individuals who have clots to adequately power research. In the past scientists depended on patients who’d been identified through clinical diagnosis of having clots. This limited the numbers of individuals who could be included in studies and underpowered research into this complex disease that has both environmental and genetic influences.



As a result, previous research tended to depend on what are called meta-analyses, essentially pooling data from several different studies to make findings.



For this genome-wide association study, researchers gathered data from more than 250,000 23andMe customers who consented to participate in research and are of European ancestry, including over 6,000 individuals who’d had blood clots.



<h2 class="wp-block-heading" id="h-genetic-associations-with-blood-clots">Genetic Associations with Blood Clots</h2>



The researchers found eight genetic variants strongly associated with the condition. Seven of the variants identified have been found in previous studies – in or near the genes F5, FGA-FGG, F11, F2, PROCR, ABO, and SLC44A2 – which is an important validation that the self-reported data gives results consistent with those studies. One association is entirely new, according to researchers. The newly found variant – – is near the gene F8, which has a known role in blood coagulation.



In addition, this study found for the first time shared genetic risk between blood clotting and the risk for stroke and coronary artery disease. This adds a new dimension to what researchers are learning about the biology of the disease. While many of the variants identified are located in genes that regulate blood coagulation or lipid levels, the researchers said their data point to changes in a gene (TFPI) involved in the regulation of and expression of endothelial cells, which line the interior surface of both blood and lymphatic vessels in the body. The study also found that one of the genetic associations with blood clotting was also associated with increased height.



Together, all these findings suggest that by pooling additional data from self-reported genetic studies, researchers could create a larger and more powerful study that could shed additional light on some of these associations and their related biology, according to the study authors.

23andMe Blog

23andMe Blog Team

The Genetics of Blood Clots

Frida Kahlo accented her unibrow, while the late Soviet leader Leonard Brezhnev presumably didn’t care about his, and neither of them knew 
<img loading="lazy" decoding="async" class="alignright wp-image-23654 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/Frida_Kahlo_by_Guillermo_Kahlo-200x300.jpg" alt="Frida Kahlo, By Guillermo Kahlo" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/Frida_Kahlo_by_Guillermo_Kahlo-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Frida_Kahlo_by_Guillermo_Kahlo-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Frida_Kahlo_by_Guillermo_Kahlo-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Frida_Kahlo_by_Guillermo_Kahlo-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Frida_Kahlo_by_Guillermo_Kahlo-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Frida_Kahlo_by_Guillermo_Kahlo.jpg 800w" sizes="auto, (max-width: 200px) 100vw, 200px" /> anything about the genetics behind what gave them their distinctive bushy brows.
A<a href="https://www.nature.com/ncomms/2016/160301/ncomms10815/full/ncomms10815.html"> new study</a> by researchers at the University College London identified some of the genetic variants associated with having a unibrow, and also plucked out associations for such things as beard thickness, hair curl, graying and baldness.
This study was unique because it focused on Latinos, who carry mixed European, Native American and African ancestry, and also because it looks at common traits –traits regarding hair – as a way to better understand human variation. Previous studies looking at these traits have focused largely on European and Asian populations.
For 23andMe’s part, we use data from 56 different genetic variants to report back customers with European ancestry their likelihood of having a Frida-esque unibrow, also known in medical parlance as synophrys. But only one of the 56 variants included in our trait report is mentioned in the University College London study. The variant those researchers found that had the strongest association isn’t on 23andMe’s chip.
We also have reports on hair curl, baldness and hair color. Each of those reports looks at many different variants some of which are also singled out in the University College London study.
That study also includes something else that is new, a variant associated with graying of hair.
&#8220;We already know several genes involved in balding and hair color but this is the first time a gene for graying has been identified in humans, as well as other genes influencing hair shape and density,&#8221;<a href="https://www.ucl.ac.uk/news/news-articles/0316/010316-first-grey-hair-gene-discovered"> said Kaustubh Adhikari</a>, a biologist at University College London and the lead author of the study.


While the researchers in this study said their findings could one day be valuable for a cosmetic company or used for criminal forensic work, we know the findings also more directly tie to the study of human variation. <img loading="lazy" decoding="async" class="alignright wp-image-23656 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/Hair-Phenotypes-300x225.jpg" alt="Hair Phenotypes" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/Hair-Phenotypes-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Hair-Phenotypes-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Hair-Phenotypes-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Hair-Phenotypes-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Hair-Phenotypes-1180x885.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This is something that 23andMe<a href="http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000993"> knows something about</a>, having innovated ways of engaging with our customers, who in turn share information on hundreds of traits from the curl of their hair to whether they can do a cartwheel.
While seemingly trivial, these associations can broaden our understanding around human variation, something scientists are still grappling with.
23andMe has created an efficient and accurate way of collecting both phenotypic and genetic data that allows for genome wide association studies of a wide assortment of traits within large groups of individuals, like what the University College London has done here by recruiting more than 6,000 individuals from Mexico, Peru, Chile, Colombia and Brazil.
For instance, 23andMe found that variants in the PAX3 gene are not only associated with the likelihood of having a unibrow, but also whether you’ve got a <a href="https://www.23andme.com/topics/traits/cleft-chin/">chin dimple</a>, or upper back hair. Other variants in the gene are associated with a syndrome that leads to deafness, facial abnormalities and skin pigmentation irregularities. So understanding these associations with common but complex traits can also provide insight into serious conditions.

Unibrows And The Study of Human Variation

The new customer experience at 23andMe is about more than just our new look; it&#8217;s also about new features.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23437" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Biology-Detail-202x300.jpg" alt="Biology Detail" width="202" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/01/Biology-Detail-202x300.jpg 202w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Biology-Detail.jpg 534w" sizes="auto, (max-width: 202px) 100vw, 202px" />
Among those new features are our new <a href="https://www.23andme.com/service/#trait-report-list">Trait Reports</a>. These reports can be a fun way to learn how your genetics influence such things as the color of your eyes, whether you’ve got dimples, and if you have a sweet tooth.
But when designing these reports, we also wanted to illustrate that it’s not just your genetics that determines these traits, but other factors as well.  What’s also useful about these reports is that they can tell you how similar or unique you are when compared to the rest of 23andMe’s customers.
The concept behind how we report the Trait results is fairly simple.
To start with, each report is based on specific genetic markers associated with that particular trait. (Customers can read more about how we determine which markers to use in the <a href="https://you.23andme.com/reports/trait.facial_features/details/#assessment-trait-methodology-trait-methodology-facial-features">Scientific Details</a>.) Then, the analysis using these markers is summarized at the top of each report.
As one example, consider the report on <a href="https://www.23andme.com/topics/traits/eye-color">eye color</a>. This report is based on a single genetic marker, , that plays a large role in determining eye color. At this marker, your genotype could be  either AA, AG, or GG. If you have an AG, 23andMe analyzes the data from 23andMe research participants who also have an AG, and in the left ring chart shows the percentage of those people who have brown, hazel, green, or blue eyes. In other words, the left ring chart is the eye-color breakdown of research participants who have your same genotype at this marker and have answered the eye-color survey question.

<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-23436" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Eye-Color-300x226.jpg" alt="Eye Color" width="300" height="226" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-300x226.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-768x580.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-1024x773.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-880x664.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color.jpg 1028w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Each Trait result has three components:

1) The ring chart on the left shows how common the trait is in customers who have the same genotype as you at specific genetic markers. (If you are already a customer you can read more about how we determine which genetic markers to use <a href="https://you.23andme.com/reports/trait.facial_features/details/#assessment-trait-methodology-trait-methodology-facial-features">here</a>.)

2) The ring chart on the right shows how common that trait is overall in 23andMe customers, regardless of genetics.
3) The result headline at the top predicts whether you are likely to have the trait, and how that compares to other customers with your genotype. This summary is based on the sum of percentages from the left ring chart.
</div>

The ring chart on the right isn’t about genetics at all – it just shows how common each eye color is in 23andMe customers. You can compare your prediction to the breakdown across other customers to see how similar or different your genetic prediction is from what would typically be expected for the average customer.
To report your likely eye color at the top of the report, we first group the eye colors into two main categories – “Light-colored” and “Dark-colored”. Then, if more than 50 percent of people who share your genotype have dark-colored eyes, your report would say, “You are likely to have dark-colored eyes.”

<h5>
&#8220;What if my result doesn&#8217;t match my actual trait?&#8221; 
</h5>

Most human traits are complex, meaning they are not determined by a single factor. Even when we find genetic factors that have a large effect on a trait, they still explain only a portion of it. This means that we can only determine the likelihood of having that trait.  That means there is still the chance of not having that trait.
We see this in the data from our customers: out of the 23andMe research participants we looked at who have an  “AG” at , around 35 percent  have light eyes and 65 percent  have dark eyes. So for about 35 percent of customers with reports that state that they “are likely to have dark eyes,” they actually have light-colored eyes. But for some genotypes, the prediction is much stronger. For example, someone with a “GG” genotype has a 97 percent chance of having light eyes. Still not 100 percent, but much more likely.


Many other factors influence eye color, including your ancestry, other genes, and other non-genetic factors. The same goes for all of the other traits in our reports, too. That&#8217;s why we also include a section in each report that talks about some of these other factors. The results are based only on specific genetic factors that we know about now, but our predictions may get better as we learn more. And your participation in surveys will help us do this by providing more and more data to work with going forward.
Trait Reports and the 23andMe research behind some of them are about more than just fun facts.
Typically there isn’t research money to support studies into the genetic basis of “<a href="https://www.23andme.com/topics/traits/cleft-chin/">having a cleft chin</a>,&#8221; or other seemingly inconsequential features, even though some of this research could potentially shed light on broader questions about human development and health.  Aside from 23andMe, there are very few large-scale studies about these kinds of traits.
The only reason we are able to do this research is because we have the right quality and quantity of data –  thanks to our customers who participate in research.
23andMe is extremely grateful for the generosity of our customers in sharing information about themselves. In the future, we hope to apply what we&#8217;re learning about traits to other aspects of our product, especially those concerning health and disease risk.
We couldn&#8217;t do it without you!
<img loading="lazy" decoding="async" class="alignnone wp-image-23439 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/About-Eye-Color-640x381.jpg" alt="About Eye Color" width="640" height="381" />

The New 23andMe Experience: A Look at Our Trait Reports

A morning cup of coffee is its own reward, but a new study by researchers sweetens the deal a bit concluding that drinking <img loading="lazy" decoding="async" class="alignright wp-image-19414 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2013/09/CoffeeInfographic-177x768.jpg" alt="CoffeeInfographic" width="177" height="768" />more coffee – even decaffeinated coffee – is associated with a longer life.


The<a href="http://circ.ahajournals.org/content/early/2015/11/10/CIRCULATIONAHA.115.017341.abstract"> study</a> by researchers at Harvard looked at mortality in a group of more than 200,000 nurses and doctors involved in a 30-year study that tracks health outcomes, diet and lifestyle. Among the many things tracked was coffee consumption, measured in cups a day.


In the first pass at the data the researchers compared those who drank one to five cups of coffee, and found a clear association with a lower risk for early death. That wasn’t actually new. There have been many studies that looked at the benefits of drinking a moderate amount of coffee. But what was striking about this study were the results when researchers looked at heavy coffee drinkers.


At first the researchers didn’t find the same association when they looked at individuals who drank more than five cups of coffee each day. But, perhaps thinking of the cliche of coffee swilling smokers, the researchers eliminated smokers from the dataset.
They still found the same association with moderate coffee consumption, but it was what they found among the heavy coffee drinkers that surprised them. Those who drank more than five cups of coffee also had a lower risk of an early death.
The study showed that individuals who drank from one to three cups of coffee had an eight percent lower risk for premature death; those who drank three to five cups had a 15 percent lower risk; while those who drank more than five cups a day had a 12 percent lower risk.
The results persisted even when correcting for age, sex and diet.
The study authors<a href="http://well.blogs.nytimes.com/2015/11/18/coffee-tied-to-lower-risk-of-dying/?ref=health"> have said</a> that while promising, the data doesn’t indicate whether there is a causal link between drinking coffee and lower mortality. There clearly is more work needed to look into that, but this study adds to the list of others that found associations between drinking coffee and beneficial outcomes including lower risks for type 2 diabetes, liver cancer, lethal prostate cancer, cardiovascular disease and certain neurological diseases.

&nbsp;
<div style="float: left; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;"><img loading="lazy" decoding="async" class="alignleft size-medium wp-image-23243" src="https://blog-api.23andme.com/wp-content/uploads/2015/11/Reports-Wellness-About-Caff-Consumption-300x183.png" alt="Reports - Wellness - About Caff Consumption" width="300" height="183" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/11/Reports-Wellness-About-Caff-Consumption-300x183.png 300w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Reports-Wellness-About-Caff-Consumption-768x469.png 768w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Reports-Wellness-About-Caff-Consumption-1024x625.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Reports-Wellness-About-Caff-Consumption-880x537.png 880w, https://blogcms.23andme.com/wp-content/uploads/2015/11/Reports-Wellness-About-Caff-Consumption-1180x721.png 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Java and Genetics 
23andMe’s wellness reports offers you insight into how your genetics might influence your consumption of caffeine.The amount of caffeine you consume – whether it&#8217;s from coffee, tea, or soft drinks – may be influenced by your genes. 23andMe’s caffeine report looks at variants in the CYP1A2 and AHR genes involved in regulating an enzyme that breaks down caffeine, and other substances, in the body.Find out more about 23andMe’s Wellness reports and other offerings <a href="https://www.23andme.com/service/">here</a>.</div>

Good News for Coffee Drinkers

As federal regulators listened, patients told them of their symptoms – the sleepless nights, the days with uncontrollable tremors or the little struggles simply maintaining their balance.
<div id="attachment_22379" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22379" class="size-medium wp-image-22379" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/paul_bw-200x300.jpg" alt="Paul Cannon" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-768x1152.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-683x1024.jpg 683w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-787x1180.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2015/03/paul_bw-scaled.jpg 1707w" sizes="auto, (max-width: 200px) 100vw, 200px" />Paul Cannon, 23andMe&#8217;s Parkinson&#8217;s Disease Program Manager.</div>
Some of those with Parkinson’s who spoke at the special U.S. Food and Drug Administration meeting in late September said they depended on drugs like Sinemet or therapies like deep brain stimulation to treat their symptoms. But they also noted that the randomness, variability, and unpredictability of their symptoms – and the side effects of treatments – have kept them constantly looking for more effective ways to deal with their Parkinson’s disease.
<h2>Hearing from Patients</h2>
Part of a series called the<a href="https://www.fda.gov/forindustry/userfees/prescriptiondruguserfee/ucm368342.htm"> Voice of the Patient</a>, which has included other meetings on topics such as breast cancer, sickle cell anemia, and HIV, the half-day session included input from dozens of individuals living with Parkinson’s and their caregivers, as well as overviews from the regulators. Hearing directly from those living with the disease and using treatments is a fresh approach.
“We strongly believe that the patient perspective is key to understanding how to approach and manage a disease and the development of new treatments,” said Paul Cannon, 23andMe’s Parkinson’s Disease Program Manager.
<h2>Unpredictability of Some Symptoms</h2>
One of those patients speaking at the session was Karl Robb, 48. Karl, who was diagnosed with Parkinson’s at 25, told the panel that it’s the unpredictability and severity of the symptoms that make it so difficult to live with the disease. He deals with it the best he can, maintains a healthy lifestyle, and swears by his vegetarian diet. But like many, he communicated the struggles of dealing with an ever-changing landscape of symptoms and the need for better drugs to battle back the effects of the disease.
Other patients echoed many of Karl&#8217;s points. They spoke about having to continually adjust their medicine based on how the disease progressed and their symptoms changed.
<h2>Drug Side Effects and Effectiveness</h2>
Often, patients said a drug lost effectiveness over time or triggered side effects that became more and more of a concern. For instance, Daniel Lewis, who was diagnosed with Parkinson’s disease 21 years ago, said that after taking Sinemet for eight years, he began to develop bad dyskinesia. While deep brain stimulation helped, it doesn’t address his speech and sleep problems, he said.
This was the kind of feedback that the FDA was after when the first started having these meetings. Officials at the agency said they realized that some of the best “data” on treatments and drug development comes directly from patients.
<h2>23andMe PD Research</h2>
In part, that is what drives 23andMe’s research model, where we invite individuals to participate in research. At the FDA meeting, our Paul Cannon drove that message home and shared with the agency some of the value of 23andMe’s online disease community and our own data from patients who have shared their experience with Parkinson’s.
Paul also spoke at the meeting and posted a<a href="https://blog-api.23andme.com/wp-content/uploads/2015/09/White-paper-for-FDA-PD-meeting-public-docket-Final.pdf?_ga=1.61852908.11442988.1396887568"> 23andMe white paper</a> summarizing findings from the 23andMe<a href="https://www.23andme.com/pd/"> Parkinson’s Disease Research Community</a> to the public docket.
23andMe now has the largest community of genotyped Parkinson’s patients, with more than 11,000 participants. These participants have not only been genotyped but also participate in surveys that track the progression of the illness, symptoms, and reactions to medication. The nature of the online community allows 23andMe to conduct research quickly and effectively, and it allows those with Parkinson’s who would otherwise be unable to participate in traditional research to become part of it.
<h2>What We&#8217;ve Learned So Far</h2>
What 23andMe researchers have learned from our Parkinson’s community includes a lot of important baseline kind of information such as the symptoms that have the greatest impacts on their lives – disturbed sleep, fatigue and pain – and how well their medication works throughout the day. There’s also a lot of information collected by 23andMe that helps put into perspective how isolating Parkinson’s can be for some patients and how it impacts their lives. For many, in fact, a majority of those surveyed, the self-reported impact of the disease on their quality of life on their excellent days was none too slight. This may reflect the relatively short duration (average 4 years from diagnosis) of the 23andMe cohort, but even so, this drops to less than half on their bad days, and a significant majority report an impact of the disease on family and social interactions.
According to the 23andMe findings, more than 80 percent of research participants said that current treatments work well or moderately well to handle their symptoms. Yet almost a quarter of participants reported that medication was effective only about 50 percent of the day or less, and significant numbers complained about wearing off (leading to a requirement for frequent dosing), lack of efficacy against specific symptoms, and bothersome side effects.
<h2>Learning from those with PD</h2>
Individuals living with Parkinson’s disease are all too aware that it is a progressive disorder, and in a response that was also stated several times at the FDA meeting, almost 80 percent of participants in 23andMe Parkinson’s Research Community said they want new treatments to slow or stop the progression of the disease.
This is the world that many of those living with Parkinson’s live in, one that includes hopes for the future, but also fears about how their illness will progress and whether current medication will remain effective.
Rebecca Houde, who spoke at the FDA meeting, said worries about her future. Only 33, she was first diagnosed at 24. She’s undergone deep brain stimulation surgery, has dealt with increasingly severe dyskinesia and has had some cognitive difficulties. To cope with some of her symptoms she takes small doses of Sinemet every hour and is also taking 14 other medications. All that leaves her wondering about how to stay ahead of her symptoms.

Patients Perspective on Parkinson’s Disease

We all measure our age in years, but results of a study lead by researchers at Kings College in London found what may be a better measurement of age – your genes.
<img loading="lazy" decoding="async" class="alignright wp-image-22903 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/healthy-aging-300x192.jpg" alt="Old grizzled man standing on hand in pose lotus." width="300" height="192" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/healthy-aging-300x192.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/09/healthy-aging-768x491.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/09/healthy-aging.jpg 866w" sizes="auto, (max-width: 300px) 100vw, 300px" />


Using RNA-profiling to measure and compare gene expression in thousands of tissue samples, the researchers were able to develop what amounts to “a biomarker for biological age” and an accurate classifier of young versus old muscle and brain tissue.
“Most people accept that all 60 year-olds are not the same, but there has been no reliable test for underlying &#8216;biological age,&#8217;” said James Timmons, of King’s College London and lead author of the<a href="http://www.genomebiology.com/2015/16/1/185"> new study</a>.


Essentially the researchers have come up with what they say is a better measurement for age, recognizing that some of us age better than others and a look at these biomarkers shows it.
Using this biomarker panel and scoring individuals based on these 150 RNA markers, could help identify people who are more at risk for age-related diseases, according to researchers. The panel may also offer better ways to gauge the effectiveness of anti-aging treatments. 
 

“This new test holds great potential … it may help improve the development and evaluation of treatments that prolong good health in older age,” said Dr Neha Issar-Brown, a program manager for population health sciences at the UK’s Medical Research Council, which helped fund the study.


While the research offers a promising new way to measure how we age, it doesn’t look at genes associated with disease or extreme longevity, which has been the focus of much of the research around aging.
While several small studies have found genetic variants that may play a role in healthy aging, larger broader genome wide studies have yet to find variants strongly associated with longevity. And yet genetics clearly plays an important role, but so too does environment and lifestyle.
For instance, some studies have focused at so-called<a href="http://news.nationalgeographic.com/2015/04/150412-longevity-health-blue-zones-obesity-diet-ngbooktalk/"> “Blue Zones”</a> – regions where people tend to live long lives – and parsing out the kind of environment, social interactions and diet that might contribute to healthy living.
But each of these efforts add more to our understanding around aging, chipping away at uncovering just what distinguishes those who “age well” from those who don’t, and why.
Some researchers are even changing how we study aging in general, looking at it in the same way as we look at disease, and, like disease, approaching it as something that can be treated.
A wonderful<a href="http://news.sciencemag.org/biology/2015/09/feature-man-who-wants-beat-back-aging"> new article in Science</a> looking at a proposed clinical trial to test the drug Metformin, which has long been used to treat type 2 diabetes, as a treatment for several age-related diseases. The proposal, by a group of respected experts in human aging, is important because it pushes the FDA into new territory. Instead of looking at a single disease, the agency would evaluate a treatment for multiple diseases and   frankly some of the unavoidable consequences of getting older.


This effort isn’t about ending aging, the researchers say. As one of the researchers, S. Jay Olshansky, of the University of Illinois,  said in the Science article: “The goal is the extension of the period of healthy life.”

Live Long And Prosper

After reading a recent <a href="https://www.slate.com/articles/health_and_science/medical_examiner/2015/08/misophonia_research_disorder_of_irritation_by_chewing_lip_smacking_sniffing.single.html">Slate piece</a>, we thought it might be worth taking one more bite at <a href="http://www.misophonia-uk.org/">Misophonia</a>.<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-2937" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/mouth-150x150.jpg" alt="mouth" width="150" height="150" />


It’s one of those conditions that you might not know is a condition, even if you have it.
<a href="https://www.23andme.com/topics/traits/misophonia/">Misophonia</a> – from the Greek word meaning hatred of sound – is characterized by feelings of rage triggered by other people chewing, sipping or chomping on their food. It’s more than just not liking bad manners at the table, but a real visceral reaction to that sound or other kinds of sounds such as sniffing, lip-smacking and even other people breathing.


Many with the condition have the same kind of surprised reaction that writer Megan Cartwright described in her Slate article. 
 

“Other people have this?! “ she asked.
She thought it was just her.
No other people have it, but often just think that it&#8217;s just them. Although Cartwright looks at a few recent small studies a little skeptically, 23andMe recently conducted an internal study looking at more than 90,000 customers who have consented to research and found that about 20 percent reported that they were “filled with rage” by the sound of others eating.


The percentage found in 23andMe’s study was similar to the numbers found in <a href="https://www.ncbi.nlm.nih.gov/pubmed/24752915">a study</a> cited by Cartwright that was done last year by psychologists at the University of South Florida. That work also found that the condition appeared to be associated with psychiatric conditions such as anxiety, depression and obsessive compulsive disorder. But other researchers said characterizing the condition, as a psychiatric disorder is a mistake.
She interviewed Dutch researcher Pawel Jastreboff, who with his wife and co-researcher, Margaret Jastreboff, first came up with the term misophonia. Pawel suggests that the condition has more to do with learned behavior by an individual with an existing <a href="https://www.ncbi.nlm.nih.gov/pubmed/25726280">sensitivity to sounds</a>.
23andMe’s research, which focused on people of European ancestry, identified a specific genetic variant, , associated with misophonia that is near the gene <a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TENM2">TENM2</a>, which plays a role in brain development.

Chew on This

Consider the cow, and this humble herbivore’s contribution to the human story.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/dairy-cow-300x200.jpg" alt="dairy cow" class="alignright size-medium wp-image-22620" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/dairy-cow-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/06/dairy-cow-768x511.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/06/dairy-cow.jpg 849w" sizes="auto, (max-width: 300px) 100vw, 300px" />


We’re not just talking burgers and ice cream, archeological evidence suggests that cows were likely first domesticated from aurochs (extinct wild oxen) as long as 11,000 years ago when farmers used their milk to <a href="https://www.npr.org/sections/thesalt/2012/12/27/168144785/an-evolutionary-whodunit-how-did-humans-develop-lactose-tolerance" target="_blank" rel="noopener noreferrer">make cheese</a> and yogurt.
Nutrient-rich with plenty of vitamin D for the sun-starved in Northern Europe, milk was a kind of superfood of the Bronze Age.
But <a href="https://www.nature.com/news/dna-data-explosion-lights-up-the-bronze-age-1.17723" target="_blank" rel="noopener noreferrer">new research</a> suggests that it took a long time before Europeans could actually benefit from this potent potable.
Looking at DNA samples from the remains for more than 100 individuals who lived in Eurasia from 3,000 to 5,000 years ago, researchers in Norway found that it took a surprisingly long time before Europeans could tolerate milk.
The study looked at much more than whether those early Europeans could tolerate dairy, and focused more broadly on a wide variety of physical and physiological traits including hair thickness, height and skin color.
But the DNA samples indicate that those early Europeans were mostly lactose intolerant, suggesting that even though they had domesticated cows at the time they were unable to digest raw milk as adults. The exception appears to be among the Yamnaya, a group of people who migrated into Northern Europe from an area near the Altai Mountains in what is now central Russia. Researchers speculate that natural selection favored this trait, giving those with it a rich source of nutrition that could sustained them during times of famine when harvests failed. 
 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/milk-287x300.jpg" alt="Glass of milk isolated on white. Vector illustration" class="alignright size-medium wp-image-22621" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/milk-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/milk-768x802.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/06/milk-980x1024.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2015/06/milk-843x880.jpg 843w, https://blogcms.23andme.com/wp-content/uploads/2015/06/milk-1130x1180.jpg 1130w" sizes="auto, (max-width: 287px) 100vw, 287px" />

<h5>
Intolerant, even today 
</h5>

Most people are actually lactose intolerant as adults. Only about <a href="https://www.sciencedirect.com/science/article/pii/S0958694611002536" target="_blank" rel="noopener noreferrer">35 percent of people worldwide</a> can digest lactose beyond the age of about seven or eight.
The numbers tell a deeper story when demographically divided. While the majority of people of European ancestry <a href="https://www.nature.com/news/archaeology-the-milk-revolution-1.13471" target="_blank" rel="noopener noreferrer">can tolerate milk</a> into adulthood, only a small minority of people of Asian ancestry can. Among 23andMe customers who consented to research only about 16 percent of those of European ancestry reported that they were <a href="https://www.23andme.com/topics/wellness/lactose-intolerance/">lactose intolerant</a> compared to about 85 percent of people of Asian ancestry.

<h5>
So what gives? 
</h5>

There are a number of <a href="https://www.npr.org/sections/thesalt/2012/12/27/168144785/an-evolutionary-whodunit-how-did-humans-develop-lactose-tolerance" target="_blank" rel="noopener noreferrer">theories</a> about why there are differences among people of different ancestry, and a recent study of ancient Northern European DNA suggests the ability to digest dairy is a relatively new phenomena.
Drinking milk is a problem for most adults. It contains high amounts of a sugar named lactose. As children, we all produce lactase, an enzyme that allows us to break up lactose in our mother&#8217;s milk. As we grow older lactase levels go down, making it harder for adults to breakdown the lactose sugars and causing gastrointestinal &#8220;discomfort.&#8221;
In populations with domesticated cattle, however, there may have been an evolutionary incentive to being able to drink milk as adults and several populations – including populations in Northern Europe – developed genetic variants that enabled adults to continue to breakdown lactose into adulthood. This genetic variant offered a likely evolutionary advantage because milk is nutrient rich, plentiful, and cleaner than many sources of water. In times of famine it offered an alternative source of food for those who could tolerate it.


In the book 10,000 Year Explosion: How Civilization Accelerated Human Evolution, anthropologists Gregory Cochran and Henry Harpending called humans with this variant “<a href="https://westhunt.wordpress.com/2012/10/23/mampires/" target="_blank" rel="noopener noreferrer">mampires</a>,” because it allowed people to feed on the milk of other animals. It’s a clever term, but maybe with a little darker connotations than necessary. As the anthropologist <a href="http://johnhawks.net/weblog/reviews/accel/question-on-selection-and-lactase-2014.html" target="_blank" rel="noopener noreferrer">John Hawkes noted</a> in his blog, milk from domesticated animals is a much more efficient use of farm animals than raising them for meat. In places in Europe, Arabia and in parts of Africa where cold or arid climates made consistent yields from farming grain difficult, milk was a good alternative source of nutrition.

23andMoo

They’ve been friends since the first grade, so Rhett McLaughlin and Link Neal, YouTube stars with their own daily show, decided to see if there might be some deeper explanation for their tight bond.
On a recent episode of their popular show <a href="https://www.youtube.com/user/rhettandlink2" target="_blank" rel="noopener noreferrer">“Good Mythical Morning”</a> the two looked at their 23andMe results and then compared traits like earwax, Neanderthal percentages and whether they got a taste of soap when they grazed on <a href="https://blog.23andme.com/articles/cilantro-love-hate-genetic-trait" target="_blank" rel="noopener noreferrer">cilantro</a>.
With the kind of friendly and funny back-and-forth banter that has made many of their videos go viral, the two used their results as a way to illustrate a recent scientific finding showing that friends tend to be more alike genetically than strangers. The study by researchers at Yale and UC San Diego was published last year in the <a href="https://www.pnas.org/content/early/2014/07/10/1400825111" target="_blank" rel="noopener noreferrer">Proceedings of the National Academy of Sciences</a>, and looked at 2,000 individuals. The scientists found that friends shared about 1 percent of their DNA – equivalent to what fourth cousins would share – versus strangers who shared very little.
The study is one of several now that have looked at how shared genetics may help people bond.
23andMe researchers also looked at this phenomenon but focused specifically on <a href="https://blog.23andme.com/23andme-research/23andme-couples-correlated/" target="_blank" rel="noopener noreferrer">couples</a> with children. Our researchers found that, contrary to what some believe, opposites don’t in fact attract. The work just added to several studies done over the years showing that people tended to bond with those with whom they are more alike than those with whom they are more different.
Whether you are into the science or not, you should check out <a href="https://www.youtube.com/user/rhettandlink2/featured" target="_blank" rel="noopener noreferrer">Rhett &amp; Link&#8217;s show</a>. It&#8217;s a lot of fun.
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