<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-9427" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/RootsLogo-300x300.png" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2011/07/RootsLogo.png 1050w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Although there has been a recent boom in DNA research, little is known about the connection between DNA and disease in African Americans.
Most genetic research studies intentionally limit enrollment to a single population—usually northern Europeans—since the analysis is easier to carry out in groups tracing ancestry to just one continental region.
Since discoveries made in one population aren’t always applicable to other ancestral groups (a genetic variant might not be associated with other populations or have a different effect), it is essential to carry out additional research. Studying African Americans is complicated, though – most members of this group <a href="../2010/01/11/large-study-reveals-details-of-african-american-genetic-ancestry/" target="_blank" rel="noopener noreferrer">trace their ancestry to both Africa and Europe</a>. It isn’t straightforward to figure out which pieces of their chromosomes came from each continent, which is essential for teasing out links between DNA and disease.
<h2>Bridging the Gap 
</h2>
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<img loading="lazy" decoding="async" class="alignright wp-image-11356 size-larger" src="http://35.88.189.111/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-833x880.png" alt="" width="833" height="880" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-833x880.png 833w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-284x300.png 284w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-768x812.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2-969x1024.png 969w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AFrican-Ancestry-woman2.png 1023w" sizes="auto, (max-width: 833px) 100vw, 833px" />
In this example of an ancestry painting from 23andMe, an African-American woman has DNA that traces to Europe (blue), Africa (green), and Asia (orange). Theoretically, a genetic factor identified in Europeans could be applicable if she inherited the version of the genetic factor tracing to Europe instead of the version tracing to Africa or Asia. It isn’t always this straightforward, however, and association studies should be carried out in African American cohorts to confirm or negate that the genetic factor is applicable.
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Bridging the gap in research is particularly important for diseases that affect African Americans more than the rest of the population. Prostate cancer is a prime example. African American men have the <a href="http://www.cancer.gov/cancertopics/factsheet/disparities/cancer-health-disparities#9" target="_blank" rel="noopener noreferrer">highest rate of prostate cancer in the United States</a>. They are more than twice as likely as men of other ethnicities to die of the disease (62% in African American males versus 26% in American males of European descent).
These numbers are staggering and point to disparities in medical access treatment and scientific research.
<h2>23andMe&#8217;s Efforts</h2>
At 23andMe we strive to provide meaningful genetic health reports to individuals of all ethnicities but are often hampered by the lack of published studies in non-Europeans. The need for more research involving African Americans is further supported by recent studies showing that many factors linked to prostate cancer in European populations <a href="../2011/06/27/ethnicity-matters-in-research-a-case-study-in-prostate-cancer/" target="_blank" rel="noopener noreferrer">don’t apply to African Americans</a> and by the fact that less than one-third of our current health reports provide results applicable to people with African ancestry.
23andMe recognizes that research has lagged in this area. In an effort to reverse this trend, it has launched Roots into the Future, an initiative aimed at discovering connections between DNA and disease in 10,000 African Americans. Our aim is to provide disease risk reports for everyone—regardless of their ancestral origins—and you can be a part of this exciting process.
February is Black History Month – see our previous posts on <a href="../2012/02/14/did-you-know-one-in-twelve-african-americans-has-sickle-cell-trait/" target="_blank" rel="noopener noreferrer">sickle cell disease</a> and <a href="../2012/02/22/did-you-know-ancestry-is-not-so-black-and-white/" target="_blank" rel="noopener noreferrer">African ancestry</a>!

23andMe Blog

23andMe Blog Team

Genetic Research Lags for African Americans

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Sickle Cell Celebrities
<img decoding="async" class="alignnone wp-image-11141" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/Miles_Davis_by_Palumbo-300x300.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/Miles_Davis_by_Palumbo-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Miles_Davis_by_Palumbo-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Miles_Davis_by_Palumbo-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Miles_Davis_by_Palumbo-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Miles_Davis_by_Palumbo-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Miles_Davis_by_Palumbo.jpg 600w" sizes="(max-width: 300px) 100vw, 300px" />
A number of famous individuals have suffered from sickle cell anemia including Miles Davis, perhaps the most famous jazz musician to have lived (some consider his platinum-selling album Kind of Blue to be THE jazz album), and Tionne &#8216;T-Boz&#8217; Watkins, a singer and founder of the R&amp;B/hip-hop group TLC. NFL superstar Tiki Barber also has sickle cell anemia and has launched a health education campaign, Be Sickle Smart: Ask Tiki about Iron. Although there is no cure for sickle cell anemia, blood transfusions can be used to treat severe anemia.
Photo by Tom Palumbo from New York City, USA (Miles Davis) [<a href="http://www.creativecommons.org/licenses/by-sa/2.0/" target="_blank" rel="noopener noreferrer">CC-BY-SA-2.0</a>], via Wikimedia Commons.
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<a href="http://www.23andme.com/topics/carrier/sickle-cell-anemia/">Sickle cell disease</a> – a group of inherited red blood cell disorders – affects millions of people around the world, but is particularly common among those with ancestry tracing to sub-Saharan Africa. In the United States alone, about 100,000 people have the disease and roughly<a href="https://www.cdc.gov/ncbddd/sicklecell/data.html" target="_blank" rel="noopener noreferrer"> one in 500</a> black or African-American babies is born with it.
Sickle cell disease is caused by having two mutated copies of the hemoglobin (HBB) gene (one from mom and another from dad). A person with two copies of the S version of the HBB gene (S is short for “sickle”) typically has sickle cell anemia; other versions of HBB are associated with<a href="https://www.cdc.gov/ncbddd/sicklecell/facts.html" target="_blank" rel="noopener noreferrer"> milder forms of anemia</a>. The rates of sickle cell disease are so high because roughly<a href="https://www.cdc.gov/ncbddd/sicklecell/data.html"> one in 13</a> Americans with African ancestry carries one mutated copy of the HBB gene and thus has <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html" target="_blank" rel="noopener noreferrer">sickle cell trait</a>. People with sickle cell trait typically do not have any symptoms of sickle cell disease, but can pass the disease on to their children – if both parents are carriers (and thus have the trait) there is a 25% chance that their child will develop sickle cell disease, a 50% chance that their child will also be a carrier, and only a 25% chance that their child will not be affected or a carrier. For people planning to have a child, knowing one’s carrier status could be useful information.
The mutation underlying sickle cell disease causes red blood cells, which are responsible for delivering oxygen to the tissues, to stiffen and take on a crescent shape that clogs blood vessels. As a result, people with sickle cell anemia have a hard time getting oxygen to certain parts of the body. In the short term, this causes excruciating episodes of pain called &#8220;crises” and in the long term repeated episodes of reduced blood flow can damage organs.
Why would a genetic mutation that causes a harmful disease to survive through evolution to the high frequency with which we observe it today? It turns out that people with the S version of the HBB gene are protected against malaria and thus survive better in parts of the world where malaria is common. Over time, having just one S version of HBB – and thus having the <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html" target="_blank" rel="noopener noreferrer">sickle cell trait</a> – improved the survival rate in human history so much that this mutation continues to exist in spite of the disease burden it causes. Read more about evolutionary trade-offs in genetics in a <a href="../2008/07/22/the-ultimate-trade-off-genes-environment-and-why-we-crave-twinkies/" target="_blank" rel="noopener noreferrer">previous blog post</a>.
<img loading="lazy" decoding="async" class="alignnone size-full wp-image-11179" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/Sicklecells.jpg" alt="" width="250" height="200" />Sickle cell anemia causes red blood cells, normally flexible and disc-shaped, to form stiff crescents that can clog blood vessels. (Image via Wikimedia Commons.)
<img loading="lazy" decoding="async" class="alignright wp-image-11174 size-medium" src="http://35.88.189.111/wp-content/uploads/2012/02/Malaria_geographic_distribution_2003-300x135.png" alt="" width="300" height="135" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/Malaria_geographic_distribution_2003-300x135.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/Malaria_geographic_distribution_2003.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />The geographic distribution of the sickle cell trait and malaria are strikingly similar. This map shows that malaria is found worldwide in tropical and subtropical regions (shaded yellow). (Image via Wikimedia Commons.)
February is <a href="http://www.history.com/topics/black-history-month" target="_blank" rel="noopener noreferrer">Black History Month</a> – stay tuned for more posts!

One in Thirteen African Americans has a Sickle Cell Trait

<img decoding="async" class="alignright size-medium wp-image-10750" title="top10ten" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg" alt="" width="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w" sizes="(max-width: 266px) 100vw, 266px" />
We thought 2010 would be hard to top but we’re happy to say that 2011 has been even better. Scientists uncovered new insights into serious conditions like type 2 diabetes and autoimmune disorders as well as traits like iris patterns. New research has also improved our understanding of the genetics of obesity, a condition that affects nearly two-thirds of Americans. And we ourselves contributed even more to the understanding of Parkinson’s disease while delving into areas that researchers traditionally neglect.
All this and much more happened in 2011 and so this list represents just a snapshot of some of the most intriguing developments.
1. The genetics of Parkinson’s disease gets a little clearer and novel breakthroughs may contribute to potential new treatments.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8774" title="cell-culture_petri-dish" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, 23andMe reported discovering novel genetic variants associated with Parkinson’s disease and in the process also replicated nearly two dozen previously reported associations. Later in the year, we also announced the discovery of <a href="https://blog.23andme.com/articles/parkinsons-discoveries" target="_blank" rel="noopener">a potential protective genetic factor</a> against Parkinson’s disease in the SGK1 gene. We’re not the only ones making progress &#8212; in March, scientists at Stanford announced that they’d successfully created <a href="https://blog.23andme.com/articles/milestones-in-the-fight-against-parkinsons-disease" target="_blank" rel="noopener">a line of cells</a> that exhibits biochemical properties of the disease in the petri dish. Together, these discoveries offer hope in the quest for determining causes and developing possible cures.
2. Genetic factors for type 2 diabetes are shared between populations of South Asian and European descent &#8212; but perhaps not equally.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-10069" title="IndianWoman(iStockblog) copy" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/IndianWomaniStockblog-copy-150x150.jpg" alt="" width="150" height="150">
People with South Asian ancestry develop type 2 diabetes at much higher rates than people with European ancestry, but relatively little is known about the genetic factors influencing this increased risk in South Asians. A recent study of nearly 60,000 people of South Asian descent <a href="https://blog.23andme.com/articles/snpwatch-genetic-variants-associated-with-type-2-diabetes-in-south-asians-and-europeans" target="_blank" rel="noopener">identified several genetic variants linked to type 2 diabetes</a>. These variants also seem to be associated with the disease in Europeans, and similarly, genetic factors previously identified in Europeans appeared to be linked to the disease in South Asians. Most of these genetic variants, however, showed stronger effects in one population than the other.
3. Genetic associations with obesity differ depending on age.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1483" title="medicalscale" src="https://blog-api.23andme.com/wp-content/uploads/2008/09/medicalscale-150x150.jpg" alt="" width="150" height="150">
Genetic variants in the FTO gene have been linked repeatedly to risk for obesity, but new research is also revealing the complex interplay between these variants and non-genetic factors. In a <a href="https://blog.23andme.com/articles/snpwatch-association-between-fto-variant-and-obesity-depends-on-age-and-impacts-development" target="_blank" rel="noopener">study published last February</a>, researchers found that the same version of an obesity-linked SNP had the opposite association with BMI in very young children than it did in older children. The association corresponds with a difference in a developmental marker known as “adiposity rebound”. The timing of adiposity rebound has been linked to obesity and related diseases later in life.
4. Genetic variation is in the eye &#8212; or iris patterns &#8212; of the beholder.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1553" title="browneyes" src="https://blog-api.23andme.com/wp-content/uploads/2008/10/browneyes-150x150.jpg" alt="" width="150" height="150">
Rings, spots and flecks of color, lines and shapes and furrows – although no two irises are the same, what causes these differences? Thanks to an Australian study of nearly 3,000 individuals, we now know that at least <a href="https://blog.23andme.com/articles/snpwatch-genetic-variation-is-in-the-eye-of-the-beholder" target="_blank" rel="noopener">a few specific genetic variants contribute to the appearance of certain iris patterns</a> such as “crypts”, “furrow contractions”, and pigmented rings. So go on, take a look in the mirror and see what kind of patterns you have in your iris and your genetics!
5. Sex matters in genetic association studies.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-9756" title="diversity(iStockBlog)" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/diversityiStockBlog-150x150.jpg" alt="" width="150" height="150">
Many diseases occur more frequently in one sex than the other but most genetic research doesn’t look at these differences, potentially missing genetic factors that have opposite effects in men and women or ones that only have an effect in one sex or the other. A Stanford research group analyzed data from one of the largest and first genome-wide association studies and found several genetic variants associated with Crohn’s disease and coronary heart disease in a sex-specific manner. They suggest that many more sex-specific factors are waiting to be identified.
6. His and Hers: Genetic factors underlying prostate cancer differ in different ethnicities and genetic factors influence breast density in women.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-4873" title="prostatemen" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/prostatemen-150x150.jpg" alt="" width="150" height="150">
New studies continue to increase our understanding of prostate cancer and breast cancer, two of the most common cancers in men and women, respectively. Women with high mammographic density have four to five times higher risk for breast cancer and in January, researchers reported a <a href="https://blog.23andme.com/articles/snpwatch-researchers-identify-variant-associated-with-breast-density" target="_blank" rel="noopener">genetic variant linked to both mammographic breast density and breast cancer risk in women</a>. For prostate cancer, we know quite a bit about genetic factors in Europeans but far less about those relevant for African Americans. In May, one of the largest studies of prostate cancer in African Americans found that <a href="https://blog.23andme.com/articles/ethnicity-matters-in-research-a-case-study-in-prostate-cancer" target="_blank" rel="noopener">only half of the genetic factors</a> linked to prostate cancer in people of European descent are linked to the cancer in African Americans.
7. 23andMe initiatives old and new prove the power of participant-driven research.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-9055" title="sarcoma image" src="https://blog-api.23andme.com/wp-content/uploads/2011/05/sarcoma-image1-150x150.jpg" alt="" width="150" height="150">
In 2011, we launched two new research initiatives. The first, focused on myeloproliferative neoplasms, continues our commitment to advancing knowledge of rare diseases using our unique research platform. The second initiative, Roots into the Future, aims to improve our understanding of the connection between DNA and disease in African Americans, a population that is significantly understudied. We’ve been enrolling participants into both of these initiatives at an incredible pace and are extremely excited to begin making important discoveries with their help. And as our Sarcoma Community Night showed us, our research participants are among the most passionate and inspiring people in the world.
8. Scientists discover new genetic factors for migraine susceptibility and 23andMe replicates the findings in days.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5157" title="migraine" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, the largest migraine study to date reported three genetic variants associated with risk for this debilitating disorder. It turns out that 23andMe’s database contains thousands of people who suffer from migraines and we were able to replicate the new study’s findings in a matter of days. This is just a small example of the power and speed of our research platform as shown by a paper we published in August replicating more than 180 genetic associations for three dozen different medical conditions in a fraction of the time it would take using the traditional research model.
9. Many genetic factors are shared across multiple autoimmune disorders.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5013" title="dnaoragami" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/dnaoragami-150x150.jpg" alt="" width="150" height="150">
Numerous studies have pinpointed genetic factors associated with autoimmune disorders such as rheumatoid arthritis, multiple sclerosis, lupus, and psoriasis to name a few. Some of these genetic factors pop up over and over again, raising the question of whether these disorders are genetically interconnected. A study published in August took a closer look at this question by examining more than 100 genetic variants previously linked to autoimmune disorders. The result: nearly half of these variants are associated with at least two different conditions.
10. New insights into our shared African ancestry, both ancient and recent.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8628" title="Hadza-hunter" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
Prevailing scientific thought pins the origins of the human species in eastern Africa, but new research published this past March suggests a different story. By measuring genetic variation from different populations around Africa, researchers at Stanford, UCSF and 23andMe found evidence that our ancestral origins may actually lie in southern Africa. And for many people of European descent, their African ancestral origins may be much closer than that. Scientists at 23andMe examined the genetic ancestry of nearly 80,000 individuals who are likely to identify as entirely of European ancestry and discovered that between three and four percent have some amount of “<a href="https://blog.23andme.com/articles/hidden-african-ancestry" target="_blank" rel="noopener">hidden African ancestry</a>”.

Our Top 10 for 2011

A recent article in Wired Magazine highlighted how the genome revolution has been skipping most people in the world: 96 percent of participants in recent genomic studies trace most of their ancestry to Europe.
<h2>Why?</h2>
Statistical analysis is more straightforward in groups tracing ancestry to just one continental region, so fewer individuals are needed to make discoveries. Although African Americans typically trace about 20% of their ancestry to Europe, studies to verify previous findings in this population have not been done for many diseases. Our understanding of how DNA influences disease risk in people with primarily non-European ancestry has much catching up to do.
23andMe hopes to bridge this growing divide through Roots into the Future, a research initiative addressing the needs of the African American community.
<h2>Accelerate Research</h2>
Our partners in the research initiative include Dr. Henry Louis Gates and the W.E.B. Du Bois Institute at Harvard, as well as advisors from academia, industry, and the 23andMe community. To rapidly accelerate genetic research in the African American community, we aim to enroll 10,000 participants who self-identify as African American, Black, or African.
Roots into the Future will help determine how genetic factors contribute to disease development in this population. Which genetic associations identified in Europeans also apply to African Americans? Can we discover new genetic markers linked to conditions of particular relevance to the African American community, such as diabetes, prostate cancer, and heart disease?
The initiative aligns with 23andMe’s broader mission of empowering individuals to understand their genetic data. And 23andMe’s unique web-based research platform can accelerate critical research in this community.
<h2>Participation</h2>
Project participants will receive free access to their personal genetic data used for the research and health and ancestry interpretations of the data. As the project progresses, participants can expect additional relevant reports and features.
Roots into the Future will launch at the end of July at the National Urban League&#8217;s annual conference in Boston.
To learn more about the project or to sign up to be notified when registration becomes more broadly available, <a href="https://www.23andme.com/roots/">go to our Roots Into the Future page</a>.
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A New 23andMe Research Initiative For African Americans

By Angela Liu and Shirley Wu



Nearly one in six men in the United States develops prostate cancer. This sobering statistic has spurred tremendous advances in research over the years, such that prostate cancer is now one of the most treatable and survivable cancers.



But there is still much we don’t know about prostate cancer and the factors leading to its development. These factors include non-genetic factors such as diet and lifestyle but also include genetic factors &#8212; variants of DNA that differ between individuals and are associated with susceptibility to the disease.



With new ways of probing the human genome, our knowledge of the genetic factors contributing to the risk of prostate cancer is growing. Researchers have identified dozens of genetic associations over the last five years related to prostate cancer. But is the current pace of research enough?







<h2 class="wp-block-heading" id="h-uneven-rates-of-prostate-cancer">Uneven Rates of Prostate Cancer</h2>



We would say no. Consider this: <a href="http://www.cancer.gov/cancertopics/factsheet/disparities/cancer-health-disparities#9" target="_blank" rel="noopener">rates of prostate cancer</a> in African American men are 1.5 to 3 times higher than for men with non-African ancestry, and African Americans have a two-fold higher mortality rate from the disease compared to European Americans. Non-genetic factors surely play a role in these differences, and chances are that genetic factors contribute, too. However, nearly all of the genetic research in prostate cancer has been in populations of European descent. Our knowledge of prostate cancer genetics in African ancestry individuals specifically &#8212; a group especially affected by the disease &#8212; is progressing much too slowly.



The few studies on African Americans have mostly been unable to confirm genetic associations identified in European populations, suggesting that different genetic factors influence risk in these two groups.



<h2 class="wp-block-heading" id="h-research-in-non-european-populations">Research in Non-European Populations</h2>



A large study published recently in PLoS Genetics showed systematically that genetic risk variants identified in Europeans are not representative of African Americans. Looking at more than 10,000 African American men, these researchers found that only half of the European risk variants were associated with prostate cancer in their study group. Even when the same region of the genome was associated with prostate cancer in both populations, the exact location or variant often differed.



As the PLoS study illustrates, findings from one population can’t simply be applied to other populations, emphasizing the need for more research in different populations.



<a href="https://www.nature.com/ng/journal/v43/n6/full/ng.839.html" target="_blank" rel="noopener">A recent study</a> published in Nature Genetics, identifying a new risk variant associated with prostate cancer in African Americans, is an essential step in the right direction, but even more studies are needed. The incredibly high rate of prostate cancer in African American men illustrates how crucial it is to deepen our understanding of prostate cancer, specifically in African Americans. Changing research generally to focus on more diverse groups has the potential to improve how we treat and prevent disease in all populations.



<h2 class="wp-block-heading" id="h-diversity-in-research">Diversity in Research</h2>



At 23andMe, we recognize that some of the biggest impacts in healthcare will come from changing how research is done. We recognize areas where traditional research models are failing and are committed to engaging patients, scientists, and everyday consumers to make a difference.



23andMe’s innovative research platform has already transformed research in &nbsp;Parkinson’s disease, and it can do the same to accelerate research in diverse populations. Keep looking for upcoming projects from 23andMe that focus on research where it is needed most!

Ethnicity Matters in Research: A Case Study in Prostate Cancer

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6445" title="elderly_1" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/elderly_1.jpg" alt="" width="337" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/elderly_1.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2010/04/elderly_1-300x199.jpg 300w" sizes="auto, (max-width: 337px) 100vw, 337px" />
New research, published recently in the journal <a href="https://dx.doi.org/10.1212/WNL.0b013e3181d9edba " target="_blank" rel="noopener">Neurology</a>, has found the surprising result that a genetic variant previously associated with better cognitive function in young people appears to have the opposite effect as people get older.
Alexandra Fiocco and colleagues from the University of California, San Francisco, studied 2,858 men and women (1,679 white and 1,179 black) who were between the ages of 70 and 79 upon recruitment to the study in 1997.   All were in generally good health and had no difficulty with day-to-day activities.
Each person was given two tests at various points over an eight year follow up period: 1) the Modified Mini-Mental State Examination, a measure of global cognitive performance; and 2) the Digit Symbol Substitution Test, which measures response speed, sustained attention, visual spatial skills and set shifting, and has been reported to distinguish mild dementia from healthy aging.
The study participants&#8217; cognitive test results were then compared with their genotypes.   This genetic variant associated with cognitive decline is found in the COMT (catechol-O-methyltransferase) gene, which encodes an enzyme involved in a variety of chemical conversions in the body, including the degradation of the neurotransmitter dopamine.   The different versions of encode COMT proteins with either a valine (Val) or methionine (Met) at amino acid 158.   The Val version of COMT is associated with higher COMT enzyme activity, and therefore lower levels of dopamine in the brain, while the Met version is associated with lower enzyme activity and higher dopamine levels.
In experiments carried out mainly in younger people, the Met version of COMT has been shown to be associated with better cognitive function.
Fiocco, et al., however, found that it was the Val version of COMT that was associated with less cognitive decline over the course of eight years in the elders they studied.   In both white and black subjects, the Val version correlated with smaller reductions in Digit Symbol Substitution test scores.   In white subjects only, the Val version was also associated with smaller declines in Modified Mini-Mental State Examination scores.
Why might the Val version of COMT have a protective effect against cognitive decline?   The authors suggest that the higher levels of COMT activity, and thus lower levels of dopamine in the brain, associated with the Val version might be better for optimal cognitive function in older adults due to the fact that there is a reduction in dopamine receptors in the brain as people age.
In support of this, they point to data showing that the brains of people with dementia have decreased levels of COMT enzyme activity.
Results from a few other studies in older adults contradict the findings of the current report.   That, combined with the fact that the Val/Met variation in the gene appears to have opposite effects in younger people, means that much more research will be needed to truly understand the role of COMT in cognition.

Genetic Variant May Impact Rate of Cognitive Decline in the Elderly

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5814" title="iStock_000003241516XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall.jpg" alt="" width="362" height="240" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-300x199.jpg 300w" sizes="auto, (max-width: 362px) 100vw, 362px" />
Researchers have identified another region of the genome associated with childhood asthma, a condition that affects more than <a href="http://www.lungusa.org/lung-disease/asthma/" target="_blank" rel="noopener noreferrer">seven million</a> American kids.
Analysis of DNA from about 1,700 children with asthma and 3,500 controls, all of European ancestry, identified several genetic variations on chromosome 1 associated with the risk of developing asthma.   Many of these same SNPs were then also found to be associated with risk for asthma in a sample of more than 1,600 African American children with asthma and 2,045 controls.   All of the newly identified SNPs are located near the gene that encodes DENND1B, a protein known to be involved in the body&#8217;s response to foreign particles.
&#8220;Many of these particles are well-known triggers of asthma.   In asthma, patients have an inappropriate immune response in which they develop airway inflammation and overreaction of the airway muscle cells,&#8221; explained Hakon Hakonarson, director of the Center for Applied Genomics at The Children&#8217;s Hospital of Philadelphia and the senior author of the study, in a <a href="http://stokes.chop.edu/publications/press/?ID=521" target="_blank" rel="noopener noreferrer">press release</a>.
The chromosome 1 variations identified by the researchers affected the odds of childhood asthma in different ways depending on ethnicity.   Versions of the SNPs associated with increased risk in African Americans were associated with decreased risk in the European sample.   This is not unusual in genetic studies, and often reflects differences in population history. The results were published recently in the <a href="https://dx.doi.org/10.1056/NEJMoa0901867" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a>.
Hakonarson suggests that his team&#8217;s finding that DENND1B has a genetic link to asthma could lead eventually to the development of new types of treatments.
&#8220;Other asthma-related genes remain to be discovered, but finding a way to target this common gene variant [found in the study] could benefit large numbers of children,&#8221; he said.
Previous research linked genetic variants on <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Search&amp;db=pubmed&amp;term=17611496" target="_blank" rel="noopener noreferrer">chromosome 17</a> with the risk for childhood asthma in Europeans.   Some of these studies suggested that these variants have an effect only in <a href="https://blog.23andme.com/2008/10/15/genes-and-environment-work-together-to-increase-risk-of-childhood-asthma/" target="_blank" rel="noopener noreferrer">children who are exposed to tobacco smoke</a>.   More research will be needed to work out the details, but the importance of chromosome 17 in asthma was further supported by the current study, which replicated the previous findings in addition to identifying the new variants on chromosome 1.

More Progress in the Search for Genetic Variants Linked to Childhood Asthma

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5791" title="aaman" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/aaman.jpg" alt="" width="475" height="464" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/12/aaman.jpg 610w, https://blogcms.23andme.com/wp-content/uploads/2009/12/aaman-300x293.jpg 300w" sizes="auto, (max-width: 475px) 100vw, 475px" /><img loading="lazy" decoding="async" class="alignright size-full wp-image-5794" title="aawoman" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/aawoman.jpg" alt="" width="475" height="459" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/12/aawoman.jpg 613w, https://blogcms.23andme.com/wp-content/uploads/2009/12/aawoman-300x290.jpg 300w" sizes="auto, (max-width: 475px) 100vw, 475px" />As shown in these <a href="https://www.23andme.com/ancestry/origins/" target="_blank" rel="noopener">ancestry paintings</a> from 23andMe, the proportion of African DNA can vary widely for African Americans.
A recent study led by Carlos Bustamante of Cornell and Sarah Tishkoff of the University of Pennsylvania has shown that genetically speaking, African American can mean a lot of different things.
<h6>Admixture</h6>
The researchers and their co-workers analyzed DNA data from 365 African Americans, 203 West Africans from 12 different countries, and 400 Europeans from 42 countries.   Their results, published in the <a href="https://www.pnas.org/cgi/doi/10.1073/pnas.0909559107" target="_blank" rel="noopener">Proceedings of the National Academy of Sciences</a>, show that the average amount of DNA in an African American&#8217;s genome that could be traced back to West Africa was about 77%, but ranged from as little as one percent to as much as 99%.
<h6>Implications for Health</h6>
These findings have important implications not only for understanding the ancestry of African Americans and the history of human migrations, but also for medical treatment.
&#8220;That some individuals who self-identify as African American show almost no West African ancestry and others show almost complete West African ancestry has implications for pharmacogenomics studies and assessment of disease risk… caution should be used in prescribing treatment based on differential guidelines for African Americans, &#8221; the authors write.
<h6>African American History</h6>
The researchers also undertook an analysis to determine if any particular stretches of DNA found in African Americans were more often descended from their West African ancestors.
The strongest finding was that there are elevated levels of African ancestry on the X chromosome, most likely reflecting a history in which interracial mating primarily happened between mothers with African ancestry and fathers with European ancestry.
The African groups studied by the research team represent just a few of the ten ethnicities mentioned most often in slave trade records. Future studies might examine other relevant populations from Sierra Leone, Senegal, Guinea Bissau, and Angola, providing further insights into the genetic ancestry of African Americans.

Large Study Reveals Details of African American Genetic Ancestry

<div id="attachment_4791" style="width: 360px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-4791" class="wp-image-4791 size-full" title="Glaucoma" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/Glaucoma.jpg" alt="Glaucoma" width="350" height="206" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/09/Glaucoma.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/09/Glaucoma-300x177.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />Credit: National Eye Institute, National Institutes of Health</div>
Glaucoma is the second leading cause of blindness and is estimated to affect over 66 million people worldwide.
This group of diseases is typically caused by increased pressure in the eye, which slowly damages the optic nerve and leads to gradual vision loss and eventual, incurable blindness if left untreated.
The most common form of glaucoma is primary open-angle glaucoma or POAG. Prevalence of POAG among Caucasians is approximately 1-2%, but those with African ancestry develop glaucoma at rates five times higher and are four times more likely to become blind once they have the disease.
<h6> Glaucoma in Families</h6>
Family history and advanced age, in addition to high intraocular pressure, are known risk factors. Studies of families and monozygotic twins suggest a genetic basis, though the specific genes involved in the majority of disease cases have remained elusive.
To explore the genetic underpinnings of POAG in individuals of African descent, a group of researchers led by Xiaodong Jiao from the National Eye Institute in Bethesda and Kang Zhang from the University of California &#8211; San Diego recently partnered with the Ministry of Health in Barbados, West Indies to search for genetic variants associated with POAG in an Afro-Caribbean population with high rates of glaucoma.
<h6>New Study</h6>
In their paper, published online this week in the <a href="https://www.pnas.org/content/early/2009/09/23/0907564106.abstract">Proceedings of the National Academy of Sciences</a>, they report results from a region of the genome, chromosome 2p16, that previous studies have linked to the disease. When they analyzed SNPs in this region of the genome for the Barbados study group, they found two common variants significantly associated with glaucoma.
Although the case-control study population was fairly small &#8211; about 252 individuals total with glaucoma and 130 controls &#8211; the effects of the two SNPs were large when individuals had two copies of the high-risk version. Individuals with a T at both copies of had about 7 times higher odds of glaucoma, while individuals with a T at both copies of had almost 35 times higher odds.
The authors note that while their analysis of the 2p16 region suggests multiple genetic bases for POAG in Afro-Caribbeans, this region overlaps with one that was shown to contribute unequivocally to POAG in some families. They posit that the severity of the mutations caused by different variants in this genomic area may influence whether resulting POAG is due to a single gene, or the combined effects of many genes acting together to increase risk.
Further studies are needed to confirm the associations of and with POAG in larger populations, and to identify the genes directly involved in development of glaucoma.
(SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all the information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.)
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African American — Page 5