Listening to Wendy Spencer’s decades-long search for her biological father, the improbability of finding him, and then her shock after learning about the legacy of hatred he inherited from his own father, one would forgive Wendy if she decided to forget she ever found him.



<figure class="wp-block-image alignright wp-image-23624 size-medium"><img loading="lazy" decoding="async" width="300" height="225" src="http://35.88.189.111/wp-content/uploads/2016/02/wendy-spencer-a-1024-300x225.jpg" alt="" class="wp-image-23624" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/02/wendy-spencer-a-1024-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/02/wendy-spencer-a-1024-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/02/wendy-spencer-a-1024-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/02/wendy-spencer-a-1024.jpg 1024w" sizes="auto, (max-width: 300px) 100vw, 300px" /><figcaption class="wp-element-caption">Wendy, right, her father, Bill, and her daughter Cosette.</figcaption></figure>



But Wendy thought perhaps her love and her family could change that legacy.



“I know people can change,&#8221; she said. &#8220;I have witnessed it before. I see it slowly happening.&#8221;



Wendy’s story of connecting with her biological father, Bill Miller, is a testament to using love to conquer hate, confronting the truth about her biological family’s history, and, even more broadly, coming to terms with America’s own history of racism. People magazine recently featured Wendy&#8217;s story and how she&#8217;s attempting to change that family legacy.



“With all the hate in the world and misunderstandings, I wish people could see each other as human beings with similar hopes and desires,” she said.







Wendy, a 50-year-old hair stylist in Sacramento, is Jewish. She married an African American man, and they have four children. One of their sons is married to a Latina, and the other is married to a Filipina. After learning from her mother more than two decades ago that she’d been conceived during an affair, she began searching for her biological father.



Last year, she tested with 23andMe. In October, when Wendy logged into her account right after her grandson’s brit milah, the Jewish circumcision ceremony, she had a notice that she had a new DNA relative. Thinking maybe she had found a new cousin, she clicked on the file.



“There was a picture of a man, it said ‘Father 50 percent match 24 segments,’” Wendy said. “Then his name, ‘William Miller.’ Needless to say, I was shocked my family heard me shout from the other room!”



She soon was able to connect with Bill. They exchanged email messages and then talked on the phone.



“We talked for an hour and a half,&#8221; Wendy said. &#8220;He cried off and on and seemed so happy.&#8221;



He’d told her that he had seen her twice after she was born but that when her parents moved and then later divorced, he’d lost track of her, although he never stopped looking. Wendy found out that he was in a cancer ward in San Antonio, recovering from surgery. She arranged to go and visit him and then flew to Texas.



He picked her up at the airport after being discharged from the hospital, and took her meet her great aunt, and a cousin.



“After a few family stories and my aunt pulling out pictures, the beginning of a nice connection was being made,” Wendy said.



The next day she went and stayed at her biological father’s house. He lived alone and had never married. The house was a wreck, but the visit allowed for Wendy to learn more about him and his family. It was almost too much for her to bear.



“He told me the reason he had the DNA test was because he was always concerned that he had a little African American in his DNA and he wanted to find out once and for all, (he does not),” she said. “It was very obvious that my dad is a racist!”



The more he talked, the more uncomfortable Wendy became as he put everyone in racial categories or sprinkled his conversation with racist terms.



“It was like a minor stab in the heart every time,” she said.



But she wanted to know “the good, the bad, and the ugly” about her biological family. Her father obliged, telling her about his father, Wendy&#8217;s grandfather, Emmett Elliot Miller.



“He told me his dad had done evil things,” she said.



Emmett Miller had been an organizer in the KKK.



He’d been involved in trying to bomb an all-black college and helped to organize the picket to stop the integration of schools in Little Rock, Arkansas.



“I felt sick to my stomach; the thought of getting up and leaving occurred to me,” she said. “At the same time, I felt God&#8217;s presence with me. It was a very gut-wrenching conversation.”



She told him how hurtful his racism was to her and asked that he stop using some of the racist words that were part of his vocabulary.



“I could tell his honesty was mixed with all the emotions he had been feeling,” she said. “This lonely older man was genuinely happy to have a daughter, grandchildren, and great-grandchildren, but his emotions were all mixed up, and he needed to share the conflict that was going on in his soul.”



His daughter is Jewish, married to a black man, and his grandchildren were all mixed, his great-grandchildren even more mixed.



Hearing her father&#8217;s stories about his family was almost too much for Wendy to process. She thought that even in her own lifetime as she was growing up in California surrounded by a family known for tolerance, her grandfather had been working so hard to prevent desegregation and the rights of black people to vote. When she eventually came home from Texas, Wendy said she was “an emotional wreck.”



She talked to her husband and her mother-in-law, who’d always had such sage advice about other matters. But on this, her mother-in-law had nothing to offer. Both of her mother-in-law&#8217;s parents had been murdered during the pre-civil rights era in Mississippi because of the color of their skin. Wendy&#8217;s mother in-law just didn&#8217;t have it in her to forgive.



“I’ve never seen my mother-in-law speechless, with no words of comfort or wisdom,” Wendy said. “She tried, but I could tell how shocking my news was to her.”



Still struggling with what she learned, Wendy continued to talk regularly with her biological father, and then he came to California to visit, arriving for Hanukkah. Wendy’s family welcomed him into their home. He stayed for five days, and became the center of attention. He connected particularly with Wendy’s son Michael and her youngest daughter Cosette. But on the fifth day of his visit, he stayed alone at home with Wendy’s husband. It did not go well.



But even after that, Wendy is trying to maintain the connection. Her father has sent Cosette gifts. He regularly emails, sends cards and calls.



From his point of view Bill said in a comment he made to People that although his language is sometime coarse he is not a racist or a bigot. At one point in the early 1960s, he and a friend were considering moving to Mississippi to help register voters, he has close friends who are Jewish and he regrets that there is tension between him and Wendy&#8217;s husband. <img decoding="async" class="ajT" src="https://ssl.gstatic.com/ui/v1/icons/mail/images/cleardot.gif" alt="">



“He says he loves me and does not deserve me,” Wendy said. “I am glad we have found each other.”



But she doesn&#8217;t know how it all will end up.



“I do not regret finding him and learning about the other half of me,” she said. “It has not been easy, but all of the story has been told.”

23andMe Blog

23andMe Blog Team

Ending a Legacy of Hate

<img loading="lazy" decoding="async" class="alignright size-full wp-image-23616" src="http://35.88.189.111/wp-content/uploads/2016/02/Screen-shot-2016-01-22-at-12.33.27-PM.jpg" alt="" width="232" height="288" />
The ability to extract and then sequence ancient DNA, not just from ancient human bones, but also from the bones of our ancient cousins the Neanderthals, is upending old notions of human migration and history.
<h2>Ancient DNA</h2>
The latest in a rapid succession of<a href="https://www.nature.com/news/evidence-mounts-for-interbreeding-bonanza-in-ancient-human-species-1.19394#Early"> new findings</a> suggests that intermixing between Neanderthals and early modern humans happened earlier than we once thought – about <a href="https://www.nature.com/articles/nature16544.epdf?referrer_access_token=CMEgDNGJuW7rNIX8-5DetdRgN0jAjWel9jnR3ZoTv0MInt_2jYvKBG--7sOqWdGTzUvToNHVvyhzE6mZLLgJJmR7yoinCDiE3vg9Q5AVA-nZquOQOOQnhcfdq9lCTp4TcwdkXstlNRZ7xfdZRcnYB6sIPffF_OSID_rECaKCbx-nDNFAoD9EQPv4N_1WWd-A8l0yEwuBeZ6eFt0-g5i0T9MPLVmGCIKRPC0jEsDeYZxD78jhZvPiTcPMjQJT5jr-&amp;tracking_referrer=www.nature.com">100,000 years ago</a> versus <a href="http://sriramsankararaman.com/publications/sankararaman.pgen.2012.pdf" target="_blank" rel="noopener noreferrer">50,000 years ago</a> – at a time that challenges long held theories about when humans migrated out of Africa and how far those migrations took them. And by looking at DNA sequences extracted from several different Neanderthal bones, researchers discovered that the gene flow didn’t just go from Neanderthals to humans.
This latest finding illustrates the impact DNA data, specifically data from ancient DNA, has had. <a href="https://www.theguardian.com/science/2014/feb/15/svante-paabo-dna-neanderthal-genetics">Svante Paabo</a> of the Max Planck Institute for Evolutionary Anthropology pioneered this innovation for extracting ancient DNA and accurately sequencing, and it radically transformed our understanding of human history.
<h2>New Information About the Past</h2>
Harvard population geneticist David Reich puts this new innovation into context in a long interview he did with<a href="http://edge.org/conversation/david_reich-the-genomic-ancient-dna-revolution"> The Edge</a>. Reich, who studies genetic variation among human populations, said that scientists have gained great new insights into history by comparing ancient DNA sequences to present-day humans’ genetic data.
“It’s a radically new type of information about the past; it’s a great gift to be able to have access to it,” Reich said in the interview. “It’s a great surprise. Who would have thought DNA survived that long?”
Probably the most profound insight from looking at ancient DNA and making comparisons with data from modern humans is that all human populations today are mixed.
<h2>Neanderthals and Modern Humans</h2>
This isn’t just about mixing between humans and Neanderthals, but mixing among early human populations and that data offers great insight into human history. He’s also looked at non-ancient human DNA to garner similar insights. So for example, Reich has looked at populations in India where they found that populations mixed there between 2000 to 4000 years ago. Before that there were unmixed populations.
“Amazingly, what you could see from the genetic data was an event in which you could see cultural change,” he said.
You can see something similar in more recent history by looking at the DNA of African Americans, which includes European ancestry, a clear mark of the slavery in the United States.
“What you’re seeing in the imprint of these populations genetically is the history of power inequality, which is usually males of power from one group having preferential access to local females, and that’s what you see in these groups,” Reich said.
Listen to Reich’s interview below.
The Edge Foundation, also has a video of his interview on its site<a href="http://edge.org/conversation/david_reich-the-genomic-ancient-dna-revolution"> here</a>.
<iframe loading="lazy" src="https://w.soundcloud.com/player/?url=https%3A//api.soundcloud.com/users/65424416&amp;auto_play=false&amp;hide_related=false&amp;show_comments=true&amp;show_user=true&amp;show_reposts=false&amp;visual=true" width="100%" height="450" frameborder="no" scrolling="no"></iframe>

Blast from the Past

New research by scientists at Vanderbilt University adds to our understanding of the legacy of our ancient cousins, the Neanderthals.<img loading="lazy" decoding="async" class="alignright wp-image-23459 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Neanderthal-Image-247x300.jpg" alt="Neanderthal Image" width="247" height="300" />
<a href="http://science.sciencemag.org/content/351/6274/737.full">The study</a> looked specifically at health conditions, finding associations between Neanderthal DNA and conditions related to immune response, blood clotting, and depression by using electronic health records from more than 50,000 individuals.
When humans migrated out of Africa they intermixed with Neanderthals perhaps 60,000 years ago, and so all non-Africans carry some remnant of Neanderthal DNA. Scientists believe that by mixing with Neanderthals, who lived and thrived in Europe and Asia for 100,000 years, modern humans got an evolutionary advantage as they migrated into those new environments.
<a href="http://www.cell.com/ajhg/abstract/S0002-9297%2815%2900486-3">A paper</a> published earlier this year suggests that intermixing with Neanderthals conferred an advantageous immune response for populations that ultimately settled in Europe. Another study two years ago looked at how intermixing with another ancient human cousin, the Denisovan, may have conferred an evolutionary advantage for Tibetans to cope with high altitude through a variant in the EPAS1 gene that helps to prevent blood thickening.
But some of those same traits inherited from Neanderthals – and presumably other ancient human cousins – that tens of thousands of years ago may have been advantageous, may not be beneficial in modern times when diet and lifestyle are so different.
“These variants sometimes protect against a disease,” said Svante Paabo the<a href="http://www.mpg.de/9819763/neanderthal-genes-immune-system"> Max Planck Institute for Evolutionary Anthropology</a>.
Interviewed for a story in Science Magazine about the findings Paabo added that some of the variants may “sometimes make people more susceptible to disease.”
Although the Vanderbilt study focuses just on health related traits, it illustrates the potential of looking at a broad grouping of phenotypes like those in the electronic medical records, with known Neanderthal variants. (23andMe <a href="https://blog.23andme.com/articles/new-neanderthal-report">reports</a> to customers the number of Neanderthal variants they carry, how that compares with other customers, and traits those variants are associated with such as back hair and height.)
In an article in the<a href="http://www.theatlantic.com/science/archive/2016/02/neanderthal-dna-affects-depression-risk-today/462345/"> Atlantic</a>, Ed Yong points this out and notes that, instead of focusing on the associations with disease, attention around this study might be better focused on what those associations can tell us about the biology of certain conditions. For instance, the researchers found that Neanderthal DNA is associated with depression and certain mood disorders. Specifically, researchers speculate variants that helped Neanderthals adapt to lower sunlight exposure in northern latitudes, could have carried a higher risk for depression, which is influenced by sunlight exposure.

The Lasting Legacy of Neanderthals

Perhaps the stories are so interesting because they seem so improbable – tales of ordinary people faced with devastating genetic diseases<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-23374" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/Research-Icon-200x200.jpeg" alt="Research Icon" width="200" height="200" /> grabbing a hold of their destiny, doing their own scientific research and making important discoveries.


A recent account featured on<a href="https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation"> This American Life</a> by<a href="http://www.propublica.org/site/author/david_epstein"> David Epstein</a>, a reporter with the non-profit news site Propublica and the author of The Sports Gene, is the latest in a series of stunning stories that highlight what is possible with the right amount of data, diligence and luck.
Epstein’s story looked at Jill Viles and<a href="http://www.gopriscilla.com/"> Priscilla Lopes-Schleip</a>, women who couldn’t seem more different – one a wheelchair-bound Iowan with wilted arms and legs, the other a Canadian Olympian known for her incredible musculature.
They both had mutations in the same gene that causes Dunnigan-type partial lipodystrophy a very rare genetic condition that results in the loss of subcutaneous fat in the limbs. But Jill had one other mutation in that same gene that triggered Emery-Dreifus, a rare type of muscular dystrophy. Epstein focuses on Jill’s incredible do-it-yourself approach to research, first identifying that she had lipodystrophy when she was only an undergraduate, and much later discovering that a connection between that condition and her rare form of muscular dystrophy.
And this story shares some of the same elements as several others we’ve seen recently, in which individuals faced with troubling symptoms and few answers, decide to dive into the science on their own and actually make meaningful discoveries.
One of the more striking stories is a wonderful article that ran last year in<a href="http://www.theatlantic.com/science/archive/2014/08/the-database-of-genetic-mutation/378792/"> The Atlantic</a> by Ed Yong. It focuses on Kim Goodsell, an endurance athlete who taught herself genetics to find out why she suffered from the rare genetic nerve disorder, Charcot-Marie Tooth disease, and another genetic disorder that affects her heart called arrhythmogenic right ventricular cardiomyopathy (ARVC). Smart and driven, Kim, who is not a scientist, was able to figure something out about the conditions that no one else had, that they were connected by mutations in the same gene, LMNA.


Finally there is the story about Eric Minikel and Sonia Vallabh, a married couple who changed their careers and became researchers after they learned that Sonia would likely develop a devastating and fatal neurodegenerative condition. The pair recently authored a paper making<a href="http://stm.sciencemag.org/content/8/322/322ra9.full"> important new findings</a> about prion disease.
There is some debate about whether stories like these represent a harbinger of things or simply edge case exceptions. The efforts featured each of these stories have yet to result in a cure, but each person featured is inspiring for what their efforts represent. Even if these are examples that few others could follow, they do point to the value of enlisting the patient in their own treatment.


As Eric Topol pointed out in Ed Yong’s story:
“People have been talking about empowering consumers since there was an Internet, but finally, we’ve reached a point where someone can delve into their condition beyond what the top physicians at the Mayo Clinic could.”

Citizen Science

As part of a collaboration with 23andMe, the personalized medicine company Celmatix is looking to dramatically improve the diagnosis and treatment of infertility.<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-4040" src="https://blog-api.23andme.com/wp-content/uploads/2009/07/istock_000004280142xsmall-200x200.jpg" alt="istock_000004280142xsmall" width="200" height="200" />


Infertility affects a large portion of the population, with an estimated<a href="http://www.resolve.org/about/fast-facts-about-fertility.html"> one in eight couples</a> in the United States having difficulty conceiving. There are many reasons for that – couples waiting longer to have children, for instance – but by understanding the complex mix of environmental and genetic factors involved, medical professionals can better treat and diagnose the condition.
That’s what this collaboration is about. 


Over the last six years,<a href="http://celmatix.com/"> Celmatix</a> has discovered and annotated more than 5,200 different genetic biomarkers involved in fertility. By leveraging 23andMe’s massive genetic database – which includes input from nearly 200,000 men and women who have answered questions about fertility – Celmatix hopes to create tests that offer physicians better insight into the risks of infertility in their patients.


“The scale of the genetic data that 23andMe has amassed is unprecedented for the field of reproductive medicine,” said Piraye Yurttas Beim, Ph.D. the founder and CEO of Celmatix.


The collaboration may also help in the development of such things as early screening for the premature decline of ovarian function in women, which has implications not just on fertility but also general health. The effort is also inline with long term efforts by 23andMe.
“Fertility and women’s health have always been important to 23andMe and our research mission,” said Emily Drabant Conley, Ph.D., vice president of business development at 23andMe.  “We chose Celmatix as our partner for fertility research because they are the leader.”


23andMe has conducted related research. In 2015, researchers at the University of Cambridge, working with scientists here at 23andMe, found half a dozen new genetic variants associated with<a href="https://blog.23andme.com/23andme-research/new-findings-on-female-infertility/"> polycystic ovary syndrome</a>, the most common reproductive disorder in women and a common cause of infertility.


Over the years, 23andMe researchers have collected a steady stream of data on female fertility, male fertility and on couples.

Collaboration to Create Better Treatments for Infertility

Twins have long fascinated us as humans, so much so that twin stories are ingrained in the mythology of almost every culture.
Beyond folklore, the study of twins has also become the bedrock for much of what we know about the genetics of traits, diseases, and other conditions. 
<code style="display: none;"> 
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<div style="float: right; text-align: justified; width: 300px; background-color: #89c336; padding: 10px; margin-left: 10px;"><iframe loading="lazy" src="https://www.youtube.com/embed/IVug8r-hl5o" width="300" height="169" frameborder="0" allowfullscreen="allowfullscreen"></iframe></div>
<code style="display: none;"> 
</code>For scientists, twins offer a ready-made test of nature and nurture, with their paired roles influencing everything from height to disease risk to intelligence. Looking at the similarities and differences shared between fraternal twins and identical twins has brought into sharp relief some of what can be explained through genetics and what can be explained from the environment. 
<code style="display: none;"> 
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<code style="display: none;"> 
</code>When we look at identical twins, we often are drawn more to their <a href="http://www.apa.org/monitor/2015/01/double-life.aspx" target="_blank" rel="noopener noreferrer">similarities than their differences</a>, but the differences can often be just as illuminating. 
<code style="display: none;"> 
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</code>Last year, a <a href="https://www.nature.com/ng/journal/v47/n7/full/ng.3285.html">meta-analysis</a> of more than 50 years of twin research—which included studies on more than 14.5 million pairs of twins—estimated that the influence of genes and the environment across all traits is about equal. 
<code style="display: none;"> 
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<code style="display: none;"> 
</code>Twins can be identical (monozygotic) or fraternal (dizygotic), but there are several other different types, including half-identical, mirror twins, and fraternal twins from different fathers (it happens). The rate of twin births has actually increased in the last 30 years, going from about 2 percent of all births to more than 3 percent.
Some of this may have to do with fertility treatment, and some might be related to women having children later in life. Older women are more likely to have twins than younger women.

Twins Seeing Double

If you have an opinion about genetic testing and the best way to return those results, the U.S. Food and Drug Administration (FDA) <img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-200x200.jpg" alt="23andMe_Logo_blog" width="200" height="200" />wants to hear it at a daylong workshop scheduled for March 2nd.how


The meeting offers the FDA a chance to get perspectives from the public and medical professionals on how best to convey genetic test results in a way that meets the needs of both patients and practitioners.
The meeting comes on the heels of the ambitious<a href="https://www.nih.gov/precision-medicine-initiative-cohort-program"> Precision Medicine Initiative</a>, announced during last year’s State of the Union address. Genetic testing and patient access and engagement are key components of the initiative.
As such the FDA is “considering new approaches in its regulation” of certain types of genetic testing, according to the<a href="https://www.gpo.gov/fdsys/pkg/FR-2016-01-14/html/2016-00540.htm"> Federal Register</a>. 
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">What: Patient and Medical Professional Perspectives on the Return of Genetic Test Results

When: March 2, 2016 from 8 a.m. to 4 p.m.

Where:<a href="https://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241740.htm" target="_blank" rel="noopener noreferrer"> FDA&#8217;s White Oak Campus</a> 
10903 New Hampshire Ave., Bldg. 31 
Conference Center, the Great Room (Rm. 1503) 
Silver Spring, MD 20993
For more information go here.
</div>

As part of the run-up to the meeting, the agency has offered up several case studies with different scenarios involving genetic testing. For instance, how to handle reporting on variants associated with different levels of risks for Alzheimer’s disease, or how to report on results that might include conflicting information or that have limited evidence.
The FDA wants to hear opinions on how best health care professionals should handle this kind of information.
You have three ways to participate:

<ol>
<li>Attend. People who want to attend and give their comments in person must register for the event, which has limited seating. The workshop is scheduled to begin at 8 a.m. ET March 2nd at the FDA’s<a href="https://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241740.htm"> White Oak Campus</a> in Silver Springs, Maryland.</li>
<li>Watch Webcast. The meeting will also be Webcast. Comments can be sent in the mail addressed to Division of Dockets Management (HFA-305), FDA, 5630 Fishers Lane, and Rm. 1061, Rockville, MD 20852.</li>
<li>Submit comments online. Comments can also be<a href="http://www.regulations.gov/#!docketDetail;D=FDA-2015-N-4809"> submitted online</a> by March 31st. All submissions, whether done through the mail or online must include reference to: “Docket No.  FDA-2015-N-4809 for `Patient and Medical Professional Perspectives on the Return of Genetic Test Results; Public Workshop; Request for Comments.’”</li>
</ol>

The FDA Wants To Hear Your Opinion

Get two smart people in a room and let them talk.
That’s the premise for astrophysicist Neil deGrasse Tyson’s show “StarTalk,” and it makes for thought-provoking conversations about <img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-23580" src="https://blog-api.23andme.com/wp-content/uploads/2016/02/neil-degrasse-tyson-and-genetics-guru-anne-wojcicki-on-a-future-without-disease-and-much-more-200x200.jpg" alt="neil-degrasse-tyson-and-genetics-guru-anne-wojcicki-on-a-future-without-disease-and-much-more" width="200" height="200" />science.


That’s what Neil got when he sat down with 23andMe’s CEO and co-founder Anne Wojcicki. As part of what Neil is calling his “Innovators” series, Neil started out with questions about why Anne started the company, and 23andMe’s mission.
And he wanted to know about her own hopes for future of 23andMe, but Neil also peppered the conversation with more fanciful and provocative questions about genetics.
Instead of a dystopian science fiction version of the future, Anne said that although there are some things to be concerned about, the possibilities for the future are much more hopeful.


“There’s a massive potential for good,” Anne told Neil.
Check out the conversation.
<script src="https://player.ooyala.com/iframe.js#pbid=3fa6999d63a34b9fbcf1cbbb67046fe6&#038;ec=R0dW9qMDE6XQB6-x1QPGD6CMjXfqpVj2"></script>

Smart Talk

In a <a href="https://www.nature.com/ncomms/2016/160202/ncomms10448/full/ncomms10448.html" target="_blank" rel="noopener noreferrer">new study </a>published today in Nature Communications, 23andMe researchers identified 15 genetic variants associated with being a morning person, including four never-before-connected to sleep cycles and associations like BMI and depression.
<img loading="lazy" decoding="async" class="alignright size-larger wp-image-23367" src="http://35.88.189.111/wp-content/uploads/2015/12/11032015_morningness_brandUpdate-1-193x880.png" alt="" width="193" height="880" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/12/11032015_morningness_brandUpdate-1-193x880.png 193w, https://blogcms.23andme.com/wp-content/uploads/2015/12/11032015_morningness_brandUpdate-1-66x300.png 66w, https://blogcms.23andme.com/wp-content/uploads/2015/12/11032015_morningness_brandUpdate-1-768x3501.png 768w, https://blogcms.23andme.com/wp-content/uploads/2015/12/11032015_morningness_brandUpdate-1-259x1180.png 259w, https://blogcms.23andme.com/wp-content/uploads/2015/12/11032015_morningness_brandUpdate-1.png 1500w" sizes="auto, (max-width: 193px) 100vw, 193px" />
<h2>Circadian Rhythm Genes</h2>
“Some circadian rhythm genes we identified have been studied in model organisms, but much less so in humans,” said David Hinds, Ph. D., a Principal Scientist and Statistical Geneticist at 23andMe, who was a co-author on the paper. We also identified new genes that have not previously been associated with sleep behavior.”
Among the genetic variants in this study, researchers found seven in or near genes already known to play a biological role in circadian rhythms. Four other variants identified are in or near genes that could plausibly be related to circadian rhythm, and the remaining four variants are more of a mystery in their role in human sleep cycles.
<h2>Related Phenotypes</h2>
Analyzing the phenotypic data, the researchers also examined associations between morning habits and conditions such as body mass index, insomnia, depression, and sleep duration.
They found that a morning person is much less likely to have insomnia, less likely to require eight hours of sleep, and less likely to suffer from depression than individuals who reported being “night owls.” Considering the effect of age and sex, morning persons are also more likely to have lower BMI, according to the research. The researchers also found that morning persons were less likely to be on the extreme ends of body mass index, meaning they were less likely to be obese and less likely to be underweight.
While this does not imply causation, some associations may warrant a deeper dive into biology. For instance, several new genetic associations were found in the FTO gene, which is associated with obesity.
<h2>Night Owl or Morning Person</h2>
Circadian rhythms are sleep and wake cycles in a 24-hour day. The cycle is triggered by changes in light stimulation. While scientists have long known that one&#8217;s genetics can influence one&#8217;s circadian rhythm, they have yet to piece together the full picture.
However, understanding why someone is more likely to be a morning person or a “night owl” continues to perplex researchers. By learning more, researchers may better understand certain health conditions associated with those differences,   such as depression, obesity, and insomnia.
23andMe’s genome-wide association study examined data from more than 89,000 customers who consented to research and answered questions about their sleep cycles. Using imputation—statistical methods to infer unobserved genotypes—the researchers were able to examine approximately eight million genetic variants, giving them a much more robust picture of the genetic influence on sleep cycles.
<h2>Morningness</h2>
On the eve of 23andMe&#8217;s paper&#8217;s publication, a team at the University of Exeter Medical School in the UK completed a similar study.
The researchers there used data from 119,000 individuals in the <a href="http://www.ukbiobank.ac.uk/about-biobank-uk/" target="_blank" rel="noopener noreferrer">UK Biobank</a> study and coordinating with 23andMe&#8217;s researchers, they were able to replicate 13 of the 16 variants they found associated with being a morning person or &#8220;morningness&#8221; in that data, including finding variants in genes associated with BMI and circadian rhythms. A preprint of the team&#8217;s paper, which is in review for publication, is posted here.
Although not part of the research in this paper, 23andMe scientists looked at this data in another way, precisely how &#8220;morningness&#8221; distributes itself geographically in the United States. Using random sub-sampling, our scientists looked at the proportion of morning people by state among customers in the US who consented to research.
The map below shows clustering along time zones – especially among the states in the mountain time zone – Colorado, New Mexico, Wyoming, and Montana.
According to 23andMe scientist Kasia Bryc, who did the analysis, some of the states with the highest proportion of morning people also tend to have older populations. However, there are many anomalies, making it difficult to draw conclusions. At the same time, the map illustrates that, as with most traits, it&#8217;s not just genetics that plays a role.
What do you think explains this distribution? <img loading="lazy" decoding="async" class="aligncenter wp-image-23472 size-large" src="http://35.88.189.111/wp-content/uploads/2016/01/01152016_morningMap_social-1024x532.png" alt="" width="1024" height="532" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/01/01152016_morningMap_social-1024x532.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/01/01152016_morningMap_social-300x156.png 300w, https://blogcms.23andme.com/wp-content/uploads/2016/01/01152016_morningMap_social-768x399.png 768w, https://blogcms.23andme.com/wp-content/uploads/2016/01/01152016_morningMap_social-880x457.png 880w, https://blogcms.23andme.com/wp-content/uploads/2016/01/01152016_morningMap_social-1180x613.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2016/01/01152016_morningMap_social.png 1500w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
The paper appears in the journal <a href="http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1006125" target="_blank" rel="noopener noreferrer">PLoS Genetics</a>.

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