by Mike Macpherson, Shirley Wu, and Joanna Mountain
<img loading="lazy" decoding="async" class="alignright wp-image-8628 size-medium" title="Hadza-hunter" src="http://35.88.189.111/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg" alt="A photo of a smiling young Hadza hunter girl." width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter.jpg 424w" sizes="auto, (max-width: 300px) 100vw, 300px" />A young Hadza hunter
From just flecks of bone and specks of DNA, scientists have been able to piece together a story of the origin of our species.
<h2>Out of East Africa?</h2>
That story, by most accounts, begins in eastern Africa 100-200,000 years ago. After all, multiple lines of evidence point to eastern Africa &#8212; it’s where the oldest recognizable human bones have been found, where the linguistic diversity is richest, and it fits the available genetic data.
However, in this week’s issue of PNAS, researchers, including those from Stanford, UCSF, and 23andMe, present much more extensive genetic evidence suggesting that humans may have originated not in eastern but in southern Africa.
<h2>Using DNA</h2>
How can genetics tell you where a species originated? A general principle is that you tend to find the highest levels of genetic variation in the portion of the population that’s been around the longest. That’s because sub-populations that split off from an original population start out with just a sample of the original population’s gene pool, and it takes a very long time for new genetic variation to build up in the new sub-population.
Using this principle, one strategy for identifying a species&#8217; origin is to measure genetic variation in several places where the species lives and look for the place where the genetic variation is highest.
For this study, the authors gathered new genome-wide data from three click-speaking peoples from southern Africa living for millennia in relative isolation and seven northern African peoples. They also assembled existing genome-wide data from 14 further African populations, covering eastern, western, and central Africa, resulting in a continent-wide representation of genetic variation.
<h2>Different Theories</h2>
With this much coverage, the researchers would have been in a position to find evidence for human origins in any part of Africa; eastern Africa would be the front-runner, but researchers have argued that northern, central, and southern Africa are also plausible candidates.
However, they found that among all the populations they looked at, the highest levels of genetic variation were found in southern Africa. This suggests, the authors conclude that each of us may trace our ancestry (ignoring any contributions from Neandertals for now!) back to southern Africa, sometimes less than 100,000 years ago.
Although this new genetic evidence is intriguing, it’s not the end of the story. There’s some archaeological evidence to support a southern African origin, but for now, it’s fairly limited. These new data are also consistent with a scenario where humankind arose in eastern Africa but later migrated to southern Africa. Studies sampling genetic diversity in further African populations may help clarify the early history of our species.
<img loading="lazy" decoding="async" class="alignright wp-image-6513 size-medium" title="joanna_africa4" src="http://35.88.189.111/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg" alt="" width="300" height="207" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/joanna_africa4.jpg 357w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. Mountain in Africa during her time in the Peace Corps
<h2>Using GWAS</h2>
The insights of this study were enabled by genome-wide genetic data of the sort that 23andMe generates. In fact, they used exactly the kind of data that 23andMe generates; the southern African Sandawe, Hadza, and Khomani individuals were all genotyped on our 580,000-SNP v2 platform, just like many of our customers.
23andMe was proud to participate in this study, which was actually launched almost 15 years ago by 23andMe’s Senior Director of Research, Joanna Mountain. Dr. Mountain collected samples for the Hadza in Tanzania and initiated the recent sample collection in South Africa.
We are also proud to note that the study’s lead and second authors, Brenna Henn, and Christopher Gignoux, are former members of Team 23andMe. Brenna and Chris made many contributions to 23andMe’s product, most visibly to the Maternal and Paternal Line features.

23andMe Blog

23andMe Blog Team

Location, Location, Location: Did Humans Start Out in Southern Africa?

Editor&#8217;s note: This post has been altered from the original. The slides from the presentation have been removed.
23andMe, like many others, believes that individuals have a right to access their own genetic information and that personal genetics will pave the way for significant advances in healthcare. These beliefs fueled the development of our direct access <a href="https://www.23andme.com/howitworks/" target="_blank" rel="noopener">Personal Genome Service</a> ® &nbsp;and <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>, our web-based, participant-driven research platform. As for any other new industry
<img decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w" sizes="(max-width: 350px) 100vw, 350px" />
or technology, however, there are concerns about the validity, accuracy, and applicability of the services and information that companies in the direct-to-consumer genetic testing industry provide. 23andMe supports thoughtful regulation that ensures consumers receive high quality information and enables, rather than inhibits, innovation.
Over the next two days, the FDA is hosting an Advisory Panel Meeting to address a number of questions related to clinical genetic tests that are marketed and provided directly to consumers. The FDA will be hearing the ideas and perspectives primarily of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, which include voting members and temporary members added for this meeting. In addition, the FDA has invited several speakers to present background information and their views on this topic, and has provided for one hour each day for public comment.
It is during the public comment period that 23andMe will be giving two presentations. This afternoon, 23andMe’s General Counsel Ashley Gould will speak about our position on the subject matter the panel will be addressing as well as our broad requests for the panel’s consideration. 23andMe’s Senior Director of Regulatory Affairs &amp; Quality Assurance, Rose Romeo, will present tomorrow afternoon on considerations for risk mitigation and thoughts on regulatory frameworks moving forward. Slides from both of their presentations can be viewed below. The agenda and other background material are available at the FDA website, including <a href="http://www.regulations.gov/#!docketDetail;dct=PS+N;rpp=10;po=0;D=FDA-2011-N-0066" target="_blank" rel="noopener">public comments</a>.
Much of the complexity in discussing regulation of genetic testing stems from the brisk evolution of technologies in this area. The first draft sequence of the human genome was first published only 10 years ago, and companies are now sequencing full genomes on demand at increasingly affordable prices. In our presentations, we take the position that all genetic testing services, whether ordered by a physician or offered through direct access, should adhere to the same standards. We simultaneously request that the FDA consider redefining and establishing regulatory standards, including some fundamental definitions, to accommodate large-scale genetic testing and support innovation of its technologies and applications. We also request that regulation be based upon evidence and not fear of potential harm to individuals which, to date, has not been demonstrated. In fact, growing numbers of participating individuals and independent studies focused on this issue provide preliminary evidence that the vast majority of people understand the information presented and experience no significant negative effects.
23andMe has been proactively collaborating with the FDA and remains committed to finding a path forward that benefits everyone. The addition of Rose Romeo to our team, who has extensive regulatory experience and is eager to help us forge that path, attests to the strength of that commitment. We look forward to working together with a wide variety of agencies, organizations, and the medical community at large to establish the regulatory and functional frameworks that will ensure consumers and healthcare professionals have access to genetic information that is clear, useful, and engaging.

23andMe Presents at FDA Advisory Panel

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8588" title="KingsSpeech" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_.jpg" alt="" width="214" height="317" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_.jpg 214w, https://blogcms.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_-203x300.jpg 203w" sizes="auto, (max-width: 214px) 100vw, 214px" />
Many films have portrayed characters who stutter, but stuttering itself has rarely been the subject of a popular movie. That all changed with <a href="http://www.kingsspeech.com/" target="_blank" rel="noopener">The King’s Speech</a>, which made headlines last weekend at the 83rd annual Academy Awards and swept four of the most coveted award categories (Best Picture, Best Director, Best Screenplay, and Best Actor). This film tells the true story of King George VI, a man struggling with a stutter who suddenly finds himself thrust onto the global stage when his father dies and his brother abdicates the throne. With the help of an unconventional speech therapist, George VI gains the confidence and vocal control needed to inspire an entire empire about to enter the second World War.
The King’s Speech brings attention to one of the most common speech disorders. Stuttering &#8212; repetition of or difficulty starting words, syllables, or phrases &#8212; affects up to 5% of children, and although most cases resolve within a few years, it continues to affect about 1% of adults. If you stutter, you’re in good company: in addition to King George VI, <a href="http://www.stutteringhelp.org/Default.aspx?tabid=128" target="_blank" rel="noopener">famous and accomplished stutterers</a> include Winston Churchill, business executive Jack Welch, Vice President Joe Biden, composer Andrew Lloyd Webber, Marilyn Monroe, James Earl Jones, Nicole Kidman, NFL runningback Adrian Peterson, author Lewis Carroll, and Charles Darwin, to name only a few.
Although researchers don’t always know the exact causes of stuttering, there are a number of factors known to be involved. Some cases of stuttering can be attributed to language development &#8212; when a child’s vocal abilities can’t keep up with what they want to say &#8212; or disruptions in signaling between the brain and speaking organs, as might be caused by a brain injury. But stuttering is also much more common in boys, and tends to run in families, suggesting genetics plays an important role.
Last year, a study published in the <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa0902630" target="_blank" rel="noopener">New England Journal of Medicine</a> identified for the first time specific genetic variants associated with stuttering. By analyzing DNA from a large Pakistani family, the researchers found a variant in the gene GNPTAB that was present in 25 out of 28 stutterers in that family. When they looked at this variant in other unrelated Pakistani stutterers and non-stutterers, they found it was present in about 10% of the stutterers but only about 1% of the non-stutterers. A <a href="https://www.nature.com/jhg/journal/v56/n1/full/jhg2010125a.html" target="_blank" rel="noopener">follow-up study</a> of this variant revealed that it likely arose from a single mutation event in an individual who lived about 570 generations ago.
Additional analysis in a larger sample of individuals of mainly European ancestry identified other, rarer mutations that may be associated with stuttering in GNPTAB as well as the GNPTG and NAGPA genes, which are closely related to GNPTAB in function. Certain mutations in the GNPTAB and GNPTG genes cause mucolipidosis, a rare, recessively-inherited disorder that affects many major organs and the motor and skeletal systems. Mucolipidosis is also often characterized by developmental problems and speech deficits, providing a link as to why other variants in these genes may predispose to stuttering and pointing to specific biological pathways that may be involved in common speech disorders.
&#8220;The King&#8217;s Speech has truly given a voice to the voiceless, hope to those who had none, and courage to those who struggle daily to be heard,&#8221; said <a href="http://www.stutteringhelp.org/Default.aspx?tabid=4" target="_blank" rel="noopener">Stuttering Foundation</a> President Jane Fraser in a <a href="http://www.stutteringhelp.org/default.aspx?tabindex=855&amp;tabid=868" target="_blank" rel="noopener">press release</a>. With the latest spotlight from the success of The King’s Speech, many hope that even more progress will be made towards awareness of stuttering and research into understanding its causes, both genetic and non-genetic.

Stuttering in the Spotlight

There is strength in numbers. With the help of our participants, we are well on our way to achieving our 1,000 person Sarcoma Community milestone. Thank you!
We have over 500 individuals who have joined our sarcoma group from all over the world and with ties to several different patient organizations. Just to give you an idea of how far we&#8217;ve come…
<ul>
<li>23andMe has shipped 550 kits to community members all over the globe</li>
<li>Over 400 Sarcoma Community members have logged in and claimed their kits</li>
<li>Over 270 Sarcoma Community members have taken the sarcoma survey</li>
</ul>
The potential of this community to make a difference in the understanding of sarcoma and the development of effective therapies is enormous. The value in research comes from participants sharing with us their genetic information and survey responses. If you&#8217;ve already joined this effort, please remember to claim those kits, send in your spit, and fill out the sarcoma survey if you have not done so already!
We need everyone&#8217;s help in spreading the word about our 23andMe Sarcoma Community to reach that 1,000 person goal. If you are part of any sarcoma online forums, advocacy groups, or social networking sites, please let your community know about our research efforts at 23andMe. The link to share is: <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">https://www.23andme.com/sarcoma</a>.
In this update, we&#8217;d also like to share a story from Nathalie Criou, a sarcoma survivor and founder of Beat Sarcoma. Nathalie has been instrumental in the 23andMe Sarcoma Community outreach effort. Her experiences and advocacy related to sarcoma are truly inspiring.
<blockquote>
I was diagnosed with sarcoma in late 2006, and spent most of 2007 in treatment for the disease. After my diagnosis, I was struck by how little was known about sarcoma and how difficult it was to find people in my situation. The local oncologists referred me to sarcoma center specialists &#8211; however, these world specialists had very little understanding of the disease themselves and even an accurate diagnosis was hard to find!
I received 8 different sarcoma diagnoses and 7 different treatment recommendations. I spent hours researching published papers on sarcoma to help me decide on a treatment path. I realized that most studies were not significant because the number of enrolled patients averaged about 3&#8230;There was no way to gauge how *I* would respond to any particular approach. My physicians referred to my treatments as &#8216;experimental&#8217;, &#8216;unproven&#8217;. I felt like anything would be a big shot in the dark&#8230;and I probably had only one shot&#8230;
Research in this field is trailing that of other cancers, yet sarcoma represents 20% of all childhood cancers, pointing at some genetic causes that could never be established through a lack of scalable research programs. This situation was unacceptable to me and I created a nonprofit, BeatSarcoma, as a vehicle for change. When 23andMe approached me with their idea of building a sarcoma community and free large-scale research program, I was thrilled. It addressed exactly the two most critical needs of the sarcoma community with a format that is perfect for our scattered group. Sarcoma research must be innovative, as traditional research formats have not yielded results so far. 23andMe embodies this spirit of innovation.
23andMe is eager to work with sarcoma specialists to drive toward the best possible results and has actively pursued partnerships with the world-leading experts. I immediately signed up to help in my own little ways and I will continue to do anything I can to support this effort. I really want this program to succeed so we can further our understanding of sarcoma. I trust that the model can be replicated over other cases of rare diseases.
Please help us spread the word through your local sarcoma organization, physicians and fellow patients or survivors. The success of this program rests on our shoulders!
&#8211; Natalie Criou
</blockquote>
We hope to have more stories and updates to share soon, but until then, please help us build this important research community!

A Sarcoma Community Update and Survivor Story

&nbsp;



Most people have never heard of osteochondrodysplasia, glycogen storage disease, or a thousand other conditions with names we may or may not be able to pronounce. 



Each of these diseases is extremely rare individually. Some, like medium-chain acyl-CoA dehydrogenase deficiency, may affect about one person in 15,000. Still, other diseases may have only a few diagnosed patients—when a diagnosis can be made at all.



<h2 class="wp-block-heading" id="h-shared-struggle">Shared Struggle</h2>



Although their symptoms may be very different, people living with rare diseases often share similar struggles, searching for answers and receiving treatment. With so few affected individuals, awareness, funding, and research towards cures for rare diseases lag dramatically behind research on more common medical conditions.



The reality is that hundreds of millions of people worldwide are affected collectively by nearly 7,000 rare diseases, the vast majority lacking treatments. In the United States alone, it’s estimated that as many as one in 10 Americans suffers from a rare disease.



<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="236" height="174" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/globalgeneslogo.png" alt="Global Genes Project logo" class="wp-image-8519" title="globalgeneslogo"/></figure>







<h2 class="wp-block-heading" id="h-global-effort">Global Effort</h2>



<a href="http://www.rarediseaseday.org" target="_blank" rel="noopener noreferrer">Rare Disease Day</a> was launched to bring the health challenges of rare diseases to the global fore, and many events are taking place today to allow people to show their support for this cause. The Global Genes Project plays a crucial role in this effort, having signed up such groups as the National Society of Genetic Counselors, Pfizer, Medpedia, Illumina, various advocacy organizations, and many others.



In the United States, rare disease initiatives are starting to make progress. The National Organization for Rare Disorders (<a href="http://www.rarediseases.org/" target="_blank" rel="noopener noreferrer">NORD</a>), which offers numerous resources for rare disease research and advocacy, has helped to create a congressional forum dedicated to rare diseases. 



The National Institutes of Health also has an <a href="http://rarediseases.info.nih.gov/" target="_blank" rel="noopener noreferrer">Office of Rare Diseases Research</a> to aid scientists and others interested in obtaining research funding or information on rare diseases. And online tools and social media are helping individuals to build robust support networks. At websites like <a href="http://inspire.com" target="_blank" rel="noopener noreferrer">Inspire</a> and <a href="http://www.patientslikeme.com" target="_blank" rel="noopener noreferrer">PatientsLikeMe</a>, people can share their stories, connect to the latest news and research, and learn from others with similar experiences.



<h2 class="wp-block-heading" id="h-personal-stories">Personal Stories</h2>



A common theme in stories told by people with rare diseases is a desire for information. One of 23andMe’s core goals is to empower individuals through access to their genetic data.  Most rare diseases are caused by alterations in a person’s genetic make-up &#8212; usually inherited, but sometimes unique to that individual.  We are learning more daily about the genetic factors involved in personal health and believe genetic information will only become more valuable over time.



23andMe also recognizes the importance of supporting research for rare diseases and is committed to applying our unique, participant-driven research platform to further knowledge about these diseases and potential treatments. We launched a  <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a> research community last year, and patients affected by sarcoma can join this initiative to take an active role in research. Customers without a rare disease can <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">contribute to research </a>as well. We plan to expand our efforts to additional rare diseases in the future.



As Joyce Graff of the von Hippel-Lindau Family Alliance <a href="http://www.inspire.com/static/inspire/reports/inspire-rare-disease-day-report-2011.pdf" target="_blank" rel="noopener noreferrer">puts it</a>, “While each disease is rare, the experience of having a rare disease is not rare.” Show your support for the millions of people affected by rare diseases and <a href="http://www.rarediseaseday.org/article/get-involved" target="_blank" rel="noopener noreferrer">learn more</a> about ways to get involved.

Help Fight Rare Disease

<img decoding="async" class="alignright size-full wp-image-219" title="feetscale" src="https://blog-api.23andme.com/wp-content/uploads/2008/05/feetscale.jpg" alt="" width="350" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/05/feetscale.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2008/05/feetscale-300x199.jpg 300w" sizes="(max-width: 425px) 100vw, 425px" />
Obesity is an enormous public health concern in the United States, affecting about 33% of adults and 20% of children and adolescents.
<h2>The Genetic Contribution to Obesity</h2>
While lifestyle and environmental factors play an undeniable role in whether an individual becomes obese, researchers have also uncovered common genetic variants that influence risk for the condition. One of the best-studied variants is in the FTO gene, associated with obesity in young adults. However, studies in different age groups have revealed subtle differences in the effect of the FTO variant on obesity risk.
To better characterize the effects of throughout childhood development, an international team of researchers from the Early Growth Genetics Consortium (EGGC) analyzed data from eight study populations, totaling nearly 20,000 individuals of European descent. Their results, published last week in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1001307" target="_blank" rel="noopener">PLoS Genetics</a>, showed a distinct genetic association with BMI that depended on age.
<h2>Looking at Age</h2>
In older children (ages 6-13), the variant was associated with a slight increase in BMI. The opposite was true in children younger than two years.
<img loading="lazy" decoding="async" class="alignright wp-image-8507 size-medium" title="journal.pgen.1001307.g002" src="http://35.88.189.111/wp-content/uploads/2011/02/journal.pgen_.1001307.g002-300x295.png" alt="BMI versus age by FTO genotype" width="300" height="295" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/02/journal.pgen_.1001307.g002-300x295.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/02/journal.pgen_.1001307.g002.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The switch in association from lower BMI to higher BMI occurred between 4-6 years of age, corresponding with a phenomenon known as “adiposity rebound” (AR). During normal development, infants experience rapidly increasing BMI, peaking around age one, followed by decreasing BMI that bottoms out around age five before rising again. AR refers to this second rise in BMI, and the EGGC study found that the A version of was also associated with earlier AR. (See figure to the right from the EGGC paper.)
<h2>FTO and Obesity</h2>
It turns out that the timing of AR can have implications later in life. <a href="https://www.nature.com/ijo/journal/v30/n4s/full/0803514a.html" target="_blank" rel="noopener">Multiple studies</a> have linked earlier AR to higher BMI in adulthood, along with increased risk for obesity-related diseases such as heart disease and type 2 diabetes.
Based on their findings, the EGGC researchers suggest that the connection between the FTO gene and obesity may have less to do with a general predisposition to obesity and more to do with childhood development and timing of AR. This observation may provide greater insight into the biological mechanisms underlying obesity, though additional studies are needed to confirm and refine the EGGC results.

Association Between FTO Variant and Obesity Depends on Age and Impacts Development

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8490" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/mammogramblog.jpg" alt="" width="300" height="199" />
Mammography is a common imaging method used to screen for breast cancer, the second most common cancer in women. The result of a mammogram is a simple black and white image of the tissues that make up the breast. But even an image displaying apparently healthy breast tissue may still show signs that could be useful in assessing risk for breast cancer. It turns out that density &#8212; the proportion of dense (white) areas that appear on a mammogram &#8212; matters. In the last decade, research has revealed that women with high mammographic density (&gt;75% dense tissue on a mammogram) have four to five times higher risk for breast cancer.
Characteristics such as age and BMI can affect mammographic density, but it’s estimated that over 60% of the variability in mammographic density is due to genetic factors. In an effort to identify these genetic factors, a multi-national team of researchers searched for genetic variants linked to this trait in 7,712 European women with known breast density. In results published recently in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.760.html" target="_blank" rel="noopener">Nature Genetics</a>, the researchers identified a variant in a gene called ZNF365 that is correlated with breast density. They found a variant associated with a 2% decrease in mammographic density.   This association of with breast cancer replicated a <a href="https://www.nature.com/ng/journal/v42/n6/full/ng.586.html" target="_blank" rel="noopener">similar result</a> found by another research group in 2010.
While the authors state that the effects of may only account for a fraction of the of the variability in mammographic density, they note that this seemingly small decrease in density is also associated with a meaningful decrease in breast cancer risk. Although the data from this study suggests that genetic variation in ZNF365 could be affecting breast cancer risk by influencing mammographic density, further research is required to confirm this finding and to determine the other genetic factors that are involved.

Researchers Identify Variant Associated with Breast Density

Imagine if the simple act of eating triggered your immune system to mistakenly mount an attack inside your own body.
Nearly three million people with Crohn’s or celiac disease face this distinct possibility every day in the United States, and they quickly learn that specific foods lead to a debilitating reaction.
<h6>Crohn&#8217;s and Celiac Differ</h6>
But while the two diseases share some similarities &#8212; both are autoimmune conditions localized to the digestive system &#8212; they also have many differences. For example, celiac disease is confined to the small intestine and is specifically a reaction to ingested gluten, while Crohn’s disease can occur anywhere in the digestive tract when an overactive immune system attacks “friendly” bacteria in the gut that normally help us to break down what we eat.
Despite these differences, evidence suggests that the two diseases may share some of the same risk factors and underlying causes.
<h6>Heritability</h6>
The two diseases sometimes run in families, and Crohn’s disease &#8212; which is usually quite rare &#8212; may be more common in individuals who have celiac disease. Variants near two genes, PTPN2 and IL18RAP, have already been identified as genetic factors shared between the two diseases, but researchers believe there to be more.
Recently, an international team of scientists led by Eleonora Festen of the University of Groningen in The Netherlands and Phillippe Goyette of the University of Montreal set out to uncover additional genetic risk factors contributing to both celiac disease and Crohn’s in nearly 10,000 subjects with either disease and more than 10,000 healthy individuals, all of European ancestry.
<h6>New Findings</h6>
Their results, published last month in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1001283" target="_blank" rel="noopener">PLoS Genetics</a>, confirmed the shared associations at PTPN2 and IL18RAP and identified two other shared risk variants near the PUS10 and TAGAP genes.
Variants near PUS10 have previously been shown to be associated with Crohn’s disease, as well as with celiac disease and ulcerative colitis, another bowel disorder; however, different factors seem to connect the three diseases to one another, suggesting that different variants near this gene may have different effects on disease development. The TAGAP gene was previously only associated with celiac disease, but it is thought to play a role in the immune system, making its newly identified link to Crohn’s disease more plausible. Future research may incorporate these results into elucidating the shared biological basis of these two diseases.

Researchers Identify Risk Variants Shared by Crohn’s Disease and Celiac Disease

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-7949" title="two_kits" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/two_kits-293x300.png" alt="" width="293" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/11/two_kits-293x300.png 293w, https://blogcms.23andme.com/wp-content/uploads/2010/11/two_kits.png 399w" sizes="auto, (max-width: 293px) 100vw, 293px" />
When we announced the release of our newest genotyping platform and offered an extended holiday sale last year, people who had been waiting for an affordable opportunity to get a glimpse of their genomes jumped at the chance.
Existing customers also acted on the news, signing up friends and family and even purchasing upgrades for themselves. As we mentioned in an earlier <a href="https://www.23andme.com/about/press/20101124/">press release</a>, the latest genotyping platform (&#8220;V3&#8221;) provides customers with data on nearly one million SNPs, compared to about 600,000 on the previous version (&#8220;V2&#8221;).
The process of upgrading platforms also provided us with additional data about SNPs on V2 that enabled us to improve our genotype calling algorithms for many SNPs systematically across both platforms, in addition to the algorithmic improvements we make routinely throughout the year.
As an existing customer on V2, you may be wondering whether you should upgrade, and what to expect if you do. 
Keep in mind that unless you&#8217;re interested in sifting through the raw data, you might not gain that much from upgrading right away. The real value of V3 will come over time as 23andMe researchers pull together information from the scientific literature to provide meaningful connections between specific SNPs and health conditions, and improve algorithms for ancestry analyses. When and if you upgrade is a decision you should evaluate for yourself after seeing the information for V3 accumulate.
Some who have already upgraded, however, may notice specific differences between V2 and V3 on top of the sheer number of SNPs.
Although a major consideration for V3 was backwards compatibility, about 30,000 SNPs that were available on V2 are not available on V3 simply because the SNPs did not successfully make it through the manufacturing process (this is expected for large genotyping platforms).
There is also a small subset of SNPs that will require manual adjustment before the data can be reported reliably back to customers, including SNPs specific to the Y chromosome and mitochondrial DNA, as well as several SNPs used to calculate results for the ABO Blood Type Health Lab. The majority of these cases should be addressed in the next few weeks.
Other differences, all very slight, that customers upgraded to V3 may notice are addressed in this community post (you must be logged into your account to view).
These include small changes to percentages in Ancestry Painting, Relative Finder, and Family Inheritance, as well as minor changes to specific haplogroup assignments.
Customers can expect to have the following approximate numbers of SNPs for their genotyping platform:
V2 only: 576,000 SNPs
V3 only: 967,000 SNPs
V2 + V3 (upgraded): 996,000 SNPs
The number and exact set of SNPs for which you have genotype data &#8212; as opposed to a &#8220;no call&#8221; result &#8212; will differ from these numbers and vary from person to person due to data quality control measures. V2 customers who upgrade to V3 will have &#8220;no calls&#8221; from their V2 results filled in by V3 data if the SNP is present on V3 and their V3 result for it passed quality control.
The raw data files for the two genotyping platforms will also be merged to provide a single raw data file.
We are excited to welcome the thousands of new 23andMe members who have just received their data and are beginning to explore the features of the service. We look forward to keeping everyone up to date on the latest research connecting genetics to your health and ancestry!
Customers genotyped on previous versions of the platform can learn more about upgrading here. Note that upgrades require a subscription to the Personal Genome Service.
For specific questions about your account or about the service, please contact <a href="mailto:help@23andme.com">help@23andme.com</a>.

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