<img loading="lazy" decoding="async" class="alignright wp-image-9801 size-medium" title="Genes mirror geography for Europeans" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />
All the drama in the European Union right now – the debt crisis, the North-South divide and the kvetching over the wisdom of a common currency – has reignited talk about the cultural divide between people on the continent.
But is the divide more than a political and cultural one?
<h6>Differences in European Traits</h6>
Is there a deeper difference among the people of Europe or those of European ancestry than whether Germans have a firmer handshake or are more punctual, or which nationality prefers a kielbasa to köttbullar?
There may be, and those differences can be seen in people’s DNA.
Although all humans are over 99 percent identical genetically, even in the tight geographic confines of Europe there is enough genetic variation that 23andMe researchers can use it to determine  <a href="https://www.23andme.com/about/factoid/pca_geography" target="_blank" rel="noopener noreferrer">from where in Europe</a> a person, or a person’s ancestors, came.
<h6>Clusters of Traits</h6>
Using principal component analysis (PCA) and linear regression – statistical tools for processing and visualizing large, complex datasets – researchers at 23andMe analyzed genetic data from 3,000 customers who all had four grandparents from the same country of origin.
When the results of the analysis are plotted on a two-dimensional graph, individuals of similar ancestry cluster together, and those clusters correspond closely to the geographic locations of the countries of Europe. Researchers at UCLA and the University of Chicago have found <a href="https://www.nature.com/nature/journal/v456/n7218/abs/nature07331.html" target="_blank" rel="noopener noreferrer">similar results</a>.
<h6>Genetic Characteristics</h6>
In that research and the work at 23andMe the clustering shows that populations within Europe have evolved distinct genetic characteristics. Another team took a similar approach to map the  <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0003862">genetic differences in East Asia</a>.
This is more than just a parlor trick for data scientists. These maps illustrate that Europeans and people of European ancestry are not homogenous but are in fact they are genetically diverse. Those differences also manifest themselves in other ways – from physical traits such as eye color, to <a href="https://www.23andme.com/about/factoid/pca_diseaserisk_pdbcc" target="_blank" rel="noopener noreferrer">propensities toward certain diseases</a>, and even <a href="https://www.23andme.com/about/factoid/pca_sociocultural" target="_blank" rel="noopener noreferrer">social and cultural characteristics</a>.
<h6>Northern European Ancestry</h6>
By comparing the ancestry inferred from their genetics to survey responses, 23andMe scientists have identified a number of physical traits associated with a person’s ancestral origin in Europe. In some cases what researchers found is very intuitive – people with Northern European ancestry are more likely to have blue eyes and blond hair, while the hair and eyes of people with Southern European ancestry are more likely brown.
Other associations were more surprising. For instance, 23andMe researchers found that a number of social and cultural traits were strongly associated with a person’s predicted genetic ancestry of origin in Europe.
A self-reported diagnosis of alcoholism was more common than average among people of predicted Irish ancestry for instance, while people with predicted Balkan ancestry were more likely to describe themselves as extraverts.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-10124" title="pca_sociocultural_plots" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/pca_sociocultural_plots.png" alt="" width="600" height="311" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/pca_sociocultural_plots.png 600w, https://blogcms.23andme.com/wp-content/uploads/2011/10/pca_sociocultural_plots-300x156.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
<h6>Parkinson&#8217;s Risk</h6>
And then there were more serious associations between predicted genetic ancestry and certain diseases. Using data from thousands of 23andMe customers of European descent, our researchers found that ancestry may be important in determining the risks for Parkinson’s disease and for basal cell carcinoma, the most common type of skin cancer.
Among 23andMe customers with European ancestry our researchers found that those diseases were more common among those with ancestry from western and northwestern countries in Europe.
All of these associations and others that we found beg many questions. First, do they reflect actual traits among people of different European ancestry or are they simply a reflection of cultural stereotypes among 23andMe customers?
More intriguing is the question of the extent to which these traits are truly influenced by genetics.
While the statistical correlations in the data are strong, we still don’t have a complete picture of why these traits appear to separate according to ancestry. Associations, of course, do not imply causation, so what exactly is going on biologically remains an open question.
See our gallery of Research Findings for PCA plots of ancestry and <a href="https://www.23andme.com/about/factoid/pca_bluevbrowneyes/" target="_blank" rel="noopener noreferrer">eye color</a>, <a href="https://www.23andme.com/about/factoid/pca_sociocultural/" target="_blank" rel="noopener noreferrer">socio-cultural traits</a>, and <a href="https://www.23andme.com/about/factoid/pca_diseaserisk_pdbcc/" target="_blank" rel="noopener noreferrer">disease risk</a> in Europeans.

23andMe Blog

23andMe Blog Team

What European DNA Can Say About Ancestry, Disease Risk, and Cultural Traits

<img loading="lazy" decoding="async" class="alignnone size-full wp-image-10069" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/IndianWomaniStockblog-copy.jpg" alt="" width="300" height="199" />
Type 2 diabetes is characterized by very high levels of sugar in the blood and is the most common form of diabetes. Although eating rich food and leading a sedentary lifestyle contribute to the development of this disease, genetics also play a role.
For reasons unclear to researchers, South Asians are four times more likely to develop <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">type 2 diabetes</a> compared to Europeans. Up until last month–when a large genome-wide association study (GWAS) on type 2 diabetes in South Asians was published in <a href="https://www.nature.com/ng/journal/v43/n10/full/ng.921.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a>–very little was known about the genetic factors underlying these differences.
<h2>Type 2 Diabetes Among People of South Asian Ancestry</h2>
The authors behind this study carried out one of the largest type 2 diabetes studies to date, scanning the genomes of nearly 19,000 people with the disease and 40,000 without it, all of South Asian descent.
Their analysis identified six SNPs linked to this condition. When they combined their results with previously published findings in other ethnicities, they found suggestive evidence that five of the six SNPs associated with type 2 diabetes in Europeans. Similarly, there was some evidence that the majority of the genetic risk factors in Europeans were also linked to disease in South Asians. Only three genetic factors were not shared at all between the two groups.
<h2>Differences Between Men and Women</h2>
By performing a sex-specific analysis of the South Asian and European dataset, the researchers found that one SNP– near the UBBP4 gene–was linked to type 2 diabetes in women but not in men. Their data further indicated that the SNP was only associated with disease in women of European descent. The authors also looked to see if the six newly identified SNPs correlated with risk factors for diabetes. Some of those factors include such things as being overweight, but the researchers found no connection.
This study is the first of its kind to identify novel genetic factors for type 2 diabetes in South Asians, a population underrepresented in genetic studies. that is relatively understudied. The authors’ findings suggest that many genetic risk factors for type 2 diabetes are shared between Europeans and South Asians. At the same time, most of the shared factors had stronger statistical evidence of a connection in one ethnicity than the other.
More research is needed to elucidate the biology related to these differences. Read more about this study in in <a href="https://www.nature.com/ng/journal/v43/n10/full/ng.921.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a>.

Genetic Variants Associated with Type 2 Diabetes in South Asians and Europeans

<img loading="lazy" decoding="async" class="alignright wp-image-9969 size-full" src="http://35.88.189.111/wp-content/uploads/2011/10/browneyesblog.jpg" alt="A photo of a face that just shows brown eyes." width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/browneyesblog.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2011/10/browneyesblog-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
By Bethann Hromatka, Ph.D.
Your iris (the colored part of the eye) can tell a lot about you. Like your fingerprint, the patterns on your iris are complex and unique. Because of this, <a href="http://www.guardian.co.uk/uk/2003/jul/29/theairlineindustry.shopping" target="_blank" rel="noopener">iris recognition</a> is used in some countries for national identification systems and to automate border crossings.
Although we know that no two irises are the same, very little is understood about the genetics underlying these differences. Investigators are studying this topic to learn more about iris-related diseases and to provide clues about the brain, since iris and brain development appear to be connected. This is true on a genetic level, for instance, a mutation linked to iris loss is also associated with defects in a portion of the brain called the frontal lobe. In addition, some iris characteristics correlate with neurological diseases like Down syndrome.
A recently published genome-wide association study (GWAS) sought to elucidate the genetic factors involved in normal iris variation between people. <a href="http://www.cell.com/AJHG/abstract/S0002-9297%2811%2900305-3" target="_blank" rel="noopener">Scientists from Australia</a> scanned the genomes of nearly 2,700 individuals, all of European descent, and measured iris characteristics such as <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig1.html" target="_blank" rel="noopener">crypts</a>, pigmented rings, <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig5.html" target="_blank" rel="noopener">furrow contractions</a>, and <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig2.html" target="_blank" rel="noopener">pigmented spots on the iris</a>.
The authors found one SNP that associated with the presence of crypts, oval-shaped areas that represent openings in the iris. This SNP is located near the SEMA3A gene, which codes for a protein that acts in both the iris and brain and directs cell movement. Interestingly, mutations in the SEMA3A gene have been previously linked to neurological disorders including schizophrenia and Alzheimer’s disease.
<img loading="lazy" decoding="async" class="wp-image-9970 size-medium alignleft" src="http://35.88.189.111/wp-content/uploads/2011/10/crypts-300x140.jpg" alt="" width="300" height="140" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/crypts-300x140.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/crypts.jpg 474w" sizes="auto, (max-width: 300px) 100vw, 300px" />The arrows mark examples of crypts. A. No crypts. E. Many large crypts. The American Journal of Human Genetics 89, 334—343, August 12, 2011.
<img loading="lazy" decoding="async" class="alignleft wp-image-9971 size-medium" src="http://35.88.189.111/wp-content/uploads/2011/10/pigmentation-rings-300x136.jpg" alt="" width="300" height="136" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/pigmentation-rings-300x136.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/pigmentation-rings.jpg 713w" sizes="auto, (max-width: 300px) 100vw, 300px" />The arrow marks a pigmented ring around the pupil. A. Absence of pigmented ring. B. Yellow/green ring on a blue iris. The American Journal of Human Genetics 89, 334—343, August 12, 2011.
Another SNP was associated with more pronounced <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig5.html" target="_blank" rel="noopener">furrow contractions</a>, which are circular and radial bands that result from the iris folding in exactly the same location each time it adapts to different light conditions. A third SNP, located near the SLC24A4 gene, was linked to pigmented rings that are visible around the pupil and distinguish different shades of green and hazel eyes. Interestingly, previous studies have also linked SLC24A4 to differences in eye color (<a href="https://www.nature.com/ng/journal/v39/n12/full/ng.2007.13.html" target="_blank" rel="noopener">blue versus green eyes</a>). Since pigmented rings on blue irises can cause the eye to appear green or hazel, the authors of this study suggest that the presence or absence of pigmented rings may drive the association between and eye color.
The authors noted that older participants tended to have more furrow contractions and pigmented spots on the iris. Males had more crypts than females, but fewer pigmented spots on the iris, furrow contractions, or pigmentation rings.
It is interesting to wonder why no two irises are the same and this study suggests that some of the differences are due to our genes. These findings also add evidence to the idea that the iris and brain are tightly linked starting very early in human development. Thus, while iris patterns can be used to tell people apart, they may also truly be a <a href="https://www.sciencedirect.com/science/article/pii/S0301051107000312" target="_blank" rel="noopener">window into our minds</a>.

Bethann Hromatka

Genetic Variation is in the Eye of the Beholder

<img loading="lazy" decoding="async" class="alignright wp-image-7626 size-medium" title="brian-ancfinder-full" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1-300x200.png" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1-300x200.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1-768x513.png 768w, https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1-880x588.png 880w, https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1.png 912w" sizes="auto, (max-width: 300px) 100vw, 300px" />
If you&#8217;re just joining us, our scientists are busy this week presenting findings from our research at ICHG/ASHG 2011 in Montreal.
But not all of our scientific contributions are in the realm of genetic associations. As some of our other conference posters have shown, we also spend a lot of time thinking about unique methods for analyzing and evaluating data, not just to investigate pressing scientific questions of relevance to our product, but to provide a comprehensive service that continuously evolves as the science does.
Our final set of posters  focuses on our Ancestry features, which include innovative tools like Relative Finder and Ancestry Finder, and  our Health reports, for which we have designed a framework that fits the unique context of direct-to-consumer, participant-driven genetics research.
(For a list of all of our presentations, click <a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener noreferrer">here</a>.)
<h5>Learning more about where people are from with Ancestry Finder</h5>
Nearly two years ago we launched Relative Finder, an innovative tool for analyzing autosomal DNA data to match genetically related individuals. About a year later we followed this up with a feature called Ancestry Finder, which uses the same algorithm as Relative Finder to identify matching DNA segments between individuals but goes an extra step of providing geographic ancestry information corresponding to country of origin for each individual&#8217;s grandparents. More than 35,000 customers have filled out this information, providing a wealth of data to investigate how well self-reported ancestry reflects genetic ancestry.
Research Scientist Dr. J. Mike Macpherson shares findings from an analysis of the data driving Ancestry Finder during the poster session on Friday October 14th from 2-3pm with his poster,
&#8220;Intra-European Ancestry Assignment: Insights from Identity-By-Descent in a Large Database of Self-Reported Ancestry.&#8221; (#445F)
<h5>Keeping customers updated on the latest genetics research</h5>
One of 23andMe&#8217;s missions is to be the world&#8217;s most trusted source of genetic information. While this includes the actual As, Ts, Cs, and Gs, it also includes information about associations between genetic variants and various health conditions and traits. The available knowledge is constantly evolving as researchers conduct and publish studies, and thus we are constantly evaluating new findings as they come out. Ensuring scientific validity is paramount, but with a large customer base holding varied interests, we must also consider the relevance, completeness, and diversity of content when deciding which findings to report.
Science Content Manager Dr. Shirley Wu discusses these considerations and the criteria we&#8217;ve developed to address them during the poster session on Friday October 14th from 2-3pm with her poster.
&#8220;Criteria for evaluating genetic associations for use in direct-to-consumer personal genetic analysis.&#8221; (#1353F)
  
(Also see our white paper describing our criteria for vetting genetic associations reported in the scientific literature.)
Check back later for recaps of the event!

What’s Behind 23andMe Health and Ancestry

In our last post, we announced four of the posters 23andMe scientists will be presenting in Montreal this week describing characteristics of our database and research platform. With the help of our tens of thousands of research<img loading="lazy" decoding="async" class="alignright size-large wp-image-10018" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/phenome-crop.png" alt="" width="1" height="1" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop-295x300.png 295w, https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop-271x149.png 271w" sizes="auto, (max-width: 1px) 100vw, 1px" /> participants, we&#8217;ve already made novel discoveries into the genetics of common traits as well as Parkinson&#8217;s disease. At ICHG/ASHG 2011, we&#8217;ll share some more of the novel findings we&#8217;ve discovered, covering everything from allergies to risk assessment.
(For a full list of 23andMe&#8217;s presentations, click &nbsp;<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener">here</a>.)
Piecing together the complicated picture of allergies
If you’re like 20% of Americans, you probably suffer from at least one allergy. Your particular trigger might be cats, or maybe it&#8217;s dust mites, pollen, nuts, shellfish, or bees. And if that&#8217;s not enough misery, allergies are often accompanied by asthma as well. To learn more about the genetic factors influencing the allergy-asthma spectrum, scientists from 23andMe, Stanford, the United Kingdom, and Johnson &amp; Johnson analyzed data from more than 20,000 participants in the 23andMe database and the Avon Longitudinal Study of Parents and Children (ALSPAC).
Principal Scientist Dr. David Hinds discusses their findings during the poster session on Thursday October 13th between 2-3pm with his poster, &#8220;Genetics of allergy and related phenotypes in participant driven and cross sectional cohorts.&#8221; (#417T)
(Also see our Research Finding on correlations between allergies.)
N 
ew genetic factors for hypothyroidism
What do Oprah Winfrey, Kelly Osbourne, and Linda Ronstadt have in common? Yes, they&#8217;re all famous women, but they also all suffer from hypothyroidism, a condition that affects about 5% of the population. 23andMe scientists conducted the first genome-wide association study of this common thyroid condition and identified four genetic factors associated with the disease, some of which have already been implicated in other thyroid disorders and some that are novel.
Founding Scientist Dr. Brian Naughton presents these findings and their broader connection with other autoimmune diseases during the poster session on Wednesday October 12th between 3-4pm with his poster, &#8220;Novel associations for hypothyroidism include known autoimmune risk loci.&#8221; (#1334W)
From genome to phenome
What do you get when you cross thousands of SNPs with thousands of phenotypes gathered from tens of thousands of people? Intriguing associations for everything from migraines to mosquito bites. Many genetic variants are associated with multiple conditions, a finding that was especially prominent amongst physical traits. We also found that associations for seemingly frivolous traits (breast size) can uncover biological relationships for serious diseases (breast cancer).
Principal Scientist Dr. Nick Eriksson describes these and other fascinating discoveries during the poster session on Thursday October 13th between 2-3pm with his poster, &#8220;Phenome-wide studies of SNPs from GWAS in a broadly phenotyped population.&#8221; (#430T)
All in the family &#8212; or not?
Conventional wisdom says that family history is the best overall method for assessing a person&#8217;s risk for disease, but is it really? How do SNP-based models compare to family history in assessing risk for disease? &nbsp;Perhaps not surprisingly, neither method is universally better than the other, but rather the relative performance of each depends on the characteristics of the disease. For less common diseases in particular, SNP-based risk assessments may perform better than family history.
Principal Scientist Dr. Nick Eriksson will be presenting the results of these analyses performed by Scientist Dr. Chuong (Tom) Do during the poster session on Wednesday October 12th between 3-4pm with the poster, &#8220;Prediction of complex multifactorial disease: comparing family history and genetics.&#8221; (#408W)
And that’s not all…
Read more about characteristics of our database and research cohorts <a title="23andMe Scientists Head to Montreal for ICHG/ASHG, Eh" href="https://blog.23andme.com/articles/23andme-scientists-head-to-montreal-for-ichgashg-eh">here</a>. Check back tomorrow to learn more about the last two presentations we’ll be giving covering methods behind our Ancestry Finder feature and how we decide what genetics findings to include in our Personal Genome Service ®.
For a full list of 23andMe&#8217;s presentations, click <a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener">here</a>.
You can also follow us on Twitter for highlights from the conference <a href="https://twitter.com/#!/23andme" target="_blank" rel="noopener">@23andMe</a> or <a href="https://twitter.com/#!/23science" target="_blank" rel="noopener">@23science</a>.

23andMe Scientists at ICHG/ASHG 2011

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9894" title="ICHG Poster" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/ICHG-Poster-e1317946714742-300x249.jpg" alt="" width="285" height="249" />
The joint  <a href="http://www.ichg2011.org/">12th International Congress of Human Genetics</a>  and  61st Annual Meeting of the  <a id="internal-source-marker_0.19561975239776075" href="http://www.ashg.org/">American Society of Human Genetics</a>  held this week in Montreal is expected to draw more than 7,000 attendees over five days. Joining the throng will be about a dozen scientists from 23andMe.
We’ll be there presenting a wide spectrum of research and perspectives driven by  our growing database. Along with findings on hypothyroidism, allergies, and risk prediction for complex diseases, we’ll be presenting several posters at the conference describing various aspects of our database and our <a href="https://www.23andme.com/research/">research model</a>.
(For a full list of 23andMe&#8217;s presentations, click <a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener">here</a>.)

Who participates in research at 23andMe?
Contributing to research is not typically the motivating factor for people who buy 23andMe&#8217;s Personal Genome Service ® but it turns out that most are willing to give back to science if you give them a chance.  Of the more than 100,000 people who&#8217;ve been genotyped through 23andMe, almost 90% have agreed to participate in research and, of those, nearly 90% have answered questions on everything from back hair to Parkinson&#8217;s disease.
Senior Geneticist Dr. Joyce Tung will share findings on various characteristics of this &#8220;research cohort&#8221; during the poster session on Thursday October 13th between 2-3pm with her poster, &#8220;<a href="http://www.ichg2011.org/cgi-bin/showdetail.pl?absno=21499" target="_blank" rel="noopener">Characteristics of an online consumer genetic research cohort.</a>&#8221; (#914T)
How do you make a difference in rare disease research?
Studying human disease is often a numbers game, and for rare diseases the odds are stacked against. Getting enough research participants to be able to make meaningful discoveries is a major challenge but 23andMe has shown that our revolutionary online recruitment and research platform can do the job.
Research Project Manager Dr. Emily Drabant will describe lessons learned from analyzing the impact of various recruitment strategies on enrollment into our Parkinson&#8217;s disease and Sarcoma research initiatives during the poster session on Wednesday October 12th between 3-4pm with her poster, &#8220;<a href="http://www.ichg2011.org/cgi-bin/showdetail.pl?absno=11282" target="_blank" rel="noopener">Evaluation of recruitment strategies for web-based genetic studies.</a>&#8221; (#942W)
Can you use online surveys to gather high quality data on drug response?
Quick poll &#8212; can you remember how you responded to ibuprofen (or aspirin, or antidepressants, or antihistamines, etc.) the last time you took it? If you&#8217;re taking a prescription medication, do you remember if your dose was ever changed and, if so, how? Just like for diseases, learning more about how people respond to drugs requires getting enough study participants to see meaningful differences. 23andMe&#8217;s research platform &#8212; where tens of thousands of people answer questions online &#8212; can facilitate research in these areas but success hinges on whether people can accurately and consistently recall their medication usage and responses to medication when asked online.  By reaching beyond our traditional web-based survey approach to include follow-up phone interviews, we are able to learn from participant questions and  incorporate participant feedback into the  development of valid drug response questions for pharmacogenomics research.
Research Project Manager Dr. Kim Barnholt will present findings from Phase 1 of our <a href="https://blog.23andme.com/articles/23andme-launches-first-national-institutes-of-health-funded-study" target="_blank" rel="noopener">NIH-funded study</a>  during the poster session on Friday October 14th between 2-3pm with her poster, &#8220;<a href="http://www.ichg2011.org/cgi-bin/showdetail.pl?absno=10797" target="_blank" rel="noopener">Web-based phenotyping for pharmacogenomics research.</a>&#8221; (#1391F)
Not so black and white
Looks can be deceiving, and often DNA tells a story that would otherwise remain lost in time. 23andMe&#8217;s senior writer and Content Editor Scott  <a href="https://blog.23andme.com/articles/hidden-african-ancestry#more-9733" target="_blank" rel="noopener">recently wrote</a> about an observation in our database where between 3 and 4 percent of the 78,000 customers who are likely to consider themselves as entirely of European ancestry actually have &#8220;hidden&#8221; African ancestry. In Scott&#8217;s case, learning about these bits of genetic ancestry opened intriguing windows into history, both at the personal level and at the cultural, social, and political levels.
Senior Director of Research Dr. Joanna Mountain will discuss this phenomenon and its implications during the poster session on Wednesday October 12th between 3-4pm with her poster, &#8220;<a href="http://www.ichg2011.org/cgi-bin/showdetail.pl?absno=22039" target="_blank" rel="noopener">Exceptions to the &#8216;One Drop Rule&#8217;? DNA evidence of African ancestry in European Americans.</a>&#8221; (#408W)
And that&#8217;s not all&#8230;
Learn more about the other presentations we&#8217;ll be giving <a title="23andMe Scientists Share Novel Findings From Our Research Platform at ICHG/ASHG 2011" href="https://blog.23andme.com/articles/23andme-scientists-share-novel-findings-from-our-research-platform-at-ichgashg-2011">here</a>.
You can also follow us on Twitter for highlights from the conference <a href="https://twitter.com/#!/23andme" target="_blank" rel="noopener">@23andMe</a> or <a href="https://twitter.com/#!/23science" target="_blank" rel="noopener">@23science</a>.

23andMe Scientists Head to Montreal for ICHG/ASHG, Eh

<div>With Kim Barnholt</div>
<img loading="lazy" decoding="async" class="alignright wp-image-10030 size-medium" title="50-50-poster" src="http://35.88.189.111/wp-content/uploads/2011/10/50-50-poster-203x300.jpg" alt="" width="203" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/50-50-poster-203x300.jpg 203w, https://blogcms.23andme.com/wp-content/uploads/2011/10/50-50-poster.jpg 214w" sizes="auto, (max-width: 203px) 100vw, 203px" />
From the minute it became clear that Adam had cancer, he became a statistic, a diagnosis, a “case study”. One of the statistics he made sure to read up on were his chances of surviving. The odds &#8212; 50/50 &#8212; didn’t seem fair in the context of his life, but his friend Kyle put it into a different perspective: “Dude, if you were a casino game, you’d have the best odds!”
Thus begins Adam’s journey with neurofibrosarcoma, a rare form of spinal cancer. His friends, his family, his girlfriend &#8212; even his therapist &#8212; try to comfort him with cliches, touting the healing properties of pets, green tea, and physical touching, the latter which feels to Adam like “getting slapped by a sea otter.”
Adam also experiences a side of having cancer that can’t be found in any textbook. His chemo buddies joke that the diagnoses with the most syllables have the worst outcomes. Kyle tries to get him to use his illness to score girls, saying “it makes you different.” And, as everyone keeps telling him “you’re going to be okay,” Adam slowly, helplessly realizes that it’s a distinct possibility that he won’t be.
Through Adam’s struggles, and the struggles of those around him, we learn that cancer is anything but straightforward. It is messy and unpredictable, often ironic, turning life at once surreal and the most real that it &#8212; and its alternative &#8212; can be. And yes, it is awkward, and it can even be funny. Lost in all the numbers and textbooks and fundraising campaigns is the fact that cancer is a uniquely human experience, different for everyone, and completely incomprehensible until you come face to face with it in yourself or a loved one.
By putting a human face on cancer, “<a href="http://www.50-50themovie.com/">50/50</a>”, a new film starring Joseph Gordon-Levitt as Adam and Seth Rogen as Kyle, refuses to let it be stereotyped. There is no sugar-coating and no pretensions. The film is simply life at its most fragile and frustrating, alternately hilarious, maddening, heartbreaking, and uplifting.
At 23andMe, we think about cancer a lot. In fact, we’ve dedicated two of our first<a href="https://www.23andme.com/research" target="_blank" rel="noopener"> research initiatives</a> to<a href="https://www.23andme.com/sarcoma"> sarcoma</a> and<a href="https://www.23andme.com/mpn"> myeloproliferative neoplasms</a>, both rare forms of cancer. But even with the best intentions we can be too easily distanced from the human side of the conditions we strive to cure.
Watching “50/50” reminded us that behind every research participant is a person with a unique story and unique experiences. Seeing Adam struggle for his life, in terms of his health but also in the overall sense of regaining his humanity and normalcy, was both humbling and inspirational.
This film makes us appreciate the effort required for research participation when life is in chaos. So we thank all of our sarcoma research participants who have chosen to join us in the fight against the disease so far. Together, we can work towards better odds.
“<a href="http://www.50-50themovie.com/" target="_blank" rel="noopener">50/50</a>” is in theaters now.  Check your local listings for show times.
Learn more about sarcoma at the <a href="http://www.curesarcoma.org" target="_blank" rel="noopener">Sarcoma Foundation of America</a>, <a href="http://www.beatsarcoma.org" target="_blank" rel="noopener">Beat Sarcoma</a>, and <a href="http://www.sarcomaalliance.org" target="_blank" rel="noopener">Sarcoma Alliance</a>.
Learn more about contributing to 23andMe’s Sarcoma research initiative <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">here</a>.

“50/50” Shows Us the Human Side of Cancer

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9830" title="MBG_Jacket(1)" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/MBG_Jacket1-187x300.jpg" alt="" width="187" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/09/MBG_Jacket1-187x300.jpg 187w, https://blogcms.23andme.com/wp-content/uploads/2011/09/MBG_Jacket1-768x1230.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2011/09/MBG_Jacket1-639x1024.jpg 639w, https://blogcms.23andme.com/wp-content/uploads/2011/09/MBG_Jacket1-549x880.jpg 549w, https://blogcms.23andme.com/wp-content/uploads/2011/09/MBG_Jacket1-737x1180.jpg 737w, https://blogcms.23andme.com/wp-content/uploads/2011/09/MBG_Jacket1-scaled.jpg 1598w" sizes="auto, (max-width: 187px) 100vw, 187px" />
<a href="http://www.lonefrank.dk/" target="_" rel="noopener">Lone Frank</a>, the award-winning Danish science writer, claims to be shy, but I don’t believe her.
There’s nothing reserved about exposing yourself as she’s done in her entertaining and enlightening new book My Beautiful Genome: Discovering Our Genetic Future One Quirk at a Time. (Oneworld Publications, October 2011.)
Frank bears all in a book that is at once about cutting edge genetic science and also about someone on a personal journey of discovery.
&#8220;What is the most interesting subject in the world?” Frank asks. “For all of us, it’s the same thing – ourselves. Me.&#8221;
But Frank, who has a Ph.D in neurobiology, isn’t navel gazing here. She uses herself and her &#8220;quirks&#8221; to delve into the scientific as well as social implications of people having access to their own genetic data. She thinks it&#8217;s a good thing, and although this book is about her, Frank is really asking much broader questions.
&#8220;The past, in its way, was gone. And the future – well, you could see an end to it,&#8221; Frank writes. &#8220;At forty-three, I’d reached the age when the chance of having children was pretty much theoretical.&#8221;
And at this point in her life, she has questions:
&#8220;Where do I come from? Who am I? Am I going to be like my parents? How will I die? And when?&#8221;
Not shallow inquiries at all.
Inquiries like these have driven other great scientific pursuits. As the renowned Oxford evolutionary biologist Richard Dawkins recently told the <a href="https://myaccount.nytimes.com/auth/login?URI=https://www.nytimes.com/2011/09/20/science/20dawkins.html&amp;OQ=Q5fQ72Q3dQ31Q26Q70Q61Q67Q65Q77Q61Q6eQ74Q65Q64Q3dQ61Q6cQ6c" target="_" rel="noopener">New York Times</a>, these are the questions that fuel his work.   &#8220;My interest in biology was pretty much always on the philosophical side. &#8216;Why do we exist, why are we here, what is it all about?'&#8221;
Framing her own journey, Frank begins her book with a quote from Danish artist Asger Jorn – “The only way to be general is to be deeply personal.”
That’s what she’s done here.
<iframe loading="lazy" title="My Beautiful Genome: Genetic Family History" width="500" height="281" src="https://www.youtube.com/embed/MRvmg1Oap_c?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
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During a call from her home in Denmark, Lone Frank provided the Blog with a few tidbits about her new book My Beautiful Genome.
Frank believes we’re at the dawning of the age of personal genomics. It’s a time that’s not too different from the moment just before the personal computer revolution began 30 years ago.
&#8220;I think what’s most useful is just getting on the bandwagon and becoming engaged with your biology,&#8221; Frank said of genetic testing. &#8220;You learn so much more about who you are.&#8221;
There’s no doubt from her book that she’s all in on the idea. 
The process of looking into her genetics made her “more present in my biology” or simply put – more attuned to her body. 
Your genetics are actually malleable, she said. For Frank this was particularly relevant because of her bouts of depression.
&#8220;It turns out I&#8217;m homozygous for all the bad variants, which makes a lot of sense,&#8221; said Frank. &#8220;But you can turn that around. When I know this is a biological disposition it&#8217;s easier to understand and I can use it to distance myself from stuff when I&#8217;m going down that black hole.&#8221;
Some tend to see genes as a set of fixed instructions. But those instructions and how a gene is expressed &#8212; turned on or off &#8212; are influenced by everything from nutrition, stress, hormones and environmental exposures.
&#8220;It&#8217;s like the black box is getting opened and you&#8217;re seeing how your genes and the environment determine whether you get a disease or not,&#8221; Frank said.
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One reviewer called Frank&#8217;s book a bit &#8220;masochistic&#8221; for her frankness about her bouts of depression, her family&#8217;s history of suicides and her own psyche. But there&#8217;s a purpose to her over-sharing. In a world where consumers are increasingly getting access to their own genetic data,  Frank turns to genetics for answers about her ancestry, her traits and her risks for diseases. And she uses it to delve into difficult questions about her prickly personality.
In one of the many wry and offhand comments in the book she responds to a researcher&#8217;s insight into her harsh judgment of others with the thought,  &#8220;Give me a break. Doesn&#8217;t the man realize how stupid other people can be?&#8221;
The book tracks both a personal and a physical journey. As any good journalist would, Frank travels to the source, manifested here by visiting genetics pioneer  <a href="http://www.nobelprize.org/nobel_prizes/medicine/laureates/1962/watson-bio.html" target="_" rel="noopener">James Watson</a> at Cold Spring Harbor Laboratory. Watson, who with <a href="http://www.nobelprize.org/nobel_prizes/medicine/laureates/1962/index.html" target="_" rel="noopener">Francis Crick</a> discovered the structure of DNA, has his own personality &#8220;quirks&#8221;, highlighted publicly through some boorish opinions about women, Africans and overweight people. But Frank bypasses this for a chance to get some insight from him about where the study of genetics is going.
Watson sends her off with two ideas: that &#8220;missing heritability&#8221; – the Holy Grail of genetics  – will be found in rare genetic variants that arise not from the genes you inherit from your parents but through mutations that arise through illnesses and environmental factors; and that &#8220;If you want to know something about your genome, you have to have a lot of eyes on it.&#8221;
Frank takes this last bit of advice to heart. She uses several direct-to-consumer genetics services to learn about her ancestry, health and traits. She meets with a series of innovators in the personal genomics industry. There&#8217;s a conversation with <a href="https://www.23andme.com/">23andMe</a> co-founder Linda Avey, and deCODE Genetics&#8217;s Kari Stefansson. She gets some time with Harvard’s <a href="http://arep.med.harvard.edu/gmc/" target="_" rel="noopener">George Church</a> of the Personal Genome Project and <a href="http://www.nationalgeographic.com/field/explorers/spencer-wells/" target="_" rel="noopener">Spencer Wells</a> of the National Geographic Society&#8217;s &#8220;Genographic Project.&#8221;
Frank also submits to a study by University of Copenhagen researchers doing experimental work about the genetics around personality. For Frank it isn’t pretty.
&#8220;Your agreeableness couldn’t be lower,&#8221; they conclude. &#8220;Then there is your low score on altruism and sympathy.&#8221;
She talks to researchers using genetics to determine the effectiveness of medicines, and delves into whether her Danish ancestry might include a long lost Spaniard. She learns of her risks for breast cancer and peripheral arterial disease. And she dives into how her genetics may influence her propensity toward depression.
In the end Frank finds the process freeing. Genetics isn&#8217;t her destiny, she says.
&#8220;My genome is not a straitjacket but a soft sweater to fill and shape, to snuggle up and stretch out in,&#8221; Frank says. &#8220;So who am I? I am what I do with this beautiful information that has flowed through millions of years through billions of organisms and has, now, finally been entrusted to me.&#8221;
<iframe loading="lazy" title="My Beautiful Genome: Genes and Destiny" width="500" height="281" src="https://www.youtube.com/embed/ICrtL2PBLUs?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>

Lone Frank’s “Beautiful Genome”

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-9867" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/babyteethiSTock1-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/09/babyteethiSTock1-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/09/babyteethiSTock1.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
By Bethann Hromatka, Ph.D.
Anyone who’s ever spent time around babies knows that teething can be disruptive and often painful. In that sense, the somewhat violent term “tooth eruption”–referring to the process of teeth breaking through the gums–seems rather appropriate.
Most people experience this phenomenon twice, first when baby teeth come in and again between six and 13 years of age when permanent teeth appear. Some people also have wisdom teeth, which are molars that develop in young adults.
While tooth development can be influenced by environmental factors, genetics also plays a role in both the timing of tooth emergence as well as the number of teeth a person ends up with. Subtle differences in tooth development are very common–for instance roughly 10% of the population is missing some teeth.
A genome-wide association study (GWAS) published in PLoS Genetics this month by <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002275" target="_blank" rel="noopener">researchers in Denmark</a> has now identified genetic factors associated with the emergence of permanent teeth. They analyzed DNA from nearly 9,000 individuals in Denmark and the United States, and found four SNPs that influenced the timing and number of visible teeth at various ages.
For at least three of these SNPs found in this study, the version associated with fewer teeth is relatively common in the population. And although the individual effects of the variants are small – correlated with about half to one tooth fewer, on average – they did seem to add up. In this study, someone with two copies of the “delayed tooth eruption” version at all four SNPs had about six fewer teeth (16 teeth) at 10-12 years of age compared to someone with no copies of the delayed versions (22 teeth).
Interestingly, a <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000856" target="_blank" rel="noopener">study published a few years ago</a> showed that two of these SNPs might also play a role in the <a href="https://blog.23andme.com/2010/03/04/snpwatch-researchers-identify-variations-associated-with-when-junior-gets-his-first-chompers/" target="_blank" rel="noopener">eruption of baby teeth</a>.<a href="../2010/03/04/snpwatch-researchers-identify-variations-associated-with-when-junior-gets-his-first-chompers/"> 
</a>
Some genetic factors contribute to multiple growth-related traits, so the authors tested if the tooth development SNPs were also linked to traits such as age at menarche (first period in young women) and adult height. In general, the genetic factors underlying these traits did not overlap. There was, however, weak evidence suggesting that several of the SNPs associated with permanent tooth development also influence adult height and breast cancer. More research is needed to determine the exact biological mechanisms linking these different traits.
This study represents the first GWAS to look for genetic factors involved in permanent tooth eruption. Studies like this one are interesting because they reveal that there is clearly natural variation across the population–some individuals have more teeth while others have less. These findings also highlight the complex interplay between genetic factors involved in human growth and development.

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