By Joyce Tung and Amy Kiefer
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It&#8217;s been an exciting seven months since we launched <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>, the arm of 23andMe that gives people an unprecedented opportunity to collaborate with us on cutting-edge genetic research. Since May, the amount of data we’ve collected has grown at a fast and furious pace. For those of us who are used to the difficult and painfully slow accumulation of data in academic research projects, this information explosion has been nothing short of amazing.
From our first baby steps with “Ten Things About You” in May, to our three latest surveys – &#8220;Health Habits,&#8221; &#8220;Where Are You From?&#8221; and &#8220;What Do You Do?&#8221; – 23andWe has undergone some serious evolution. Almost every month, we have published more surveys and developed more features to help make the survey-taking experience simpler, more interesting, and more rewarding. We want to make it easy for our customers to provide truthful, good quality data, as that is the first and most important step towards doing high quality research. A big thank you to all our survey takers–we pledge to constantly work on improving this feature so we can keep you coming back for more.
We’re starting to look at genetic associations with the traits we ask about in our surveys, and we expect to have some exciting ones to report soon. But we’ve already learned some interesting things just by looking at the survey responses themselves. For example, while a few sources suggest that a higher percentage of men are left-handed than women, our data so far suggest that once you control for age this is not the case. It seems like our society is becoming more accepting of us female lefties! We’ve also seen that handedness does indeed significantly correlate with footedness. That is, left-handers are more likely to be left-footed, and right-handers are more likely to be right-footed. Similarly, handedness significantly correlates with ocular dominance, as left-handers are more likely to be left-eye dominant, and right-handers are more likely to be right-eye dominant.
And proving mom right once and for all, we&#8217;ve found that a sweet tooth does lead to more cavities. After controlling for sex and age, you&#8217;re more likely to report having many cavities (as opposed to few or none) if you reach for either something sweet or something sweet and salty when it&#8217;s time for a snack.
How is this kind of information going to usher in the era of personalized medicine? Handedness may seem like a relatively trivial trait, but it is correlated with risk for learning disability, schizophrenia, exceptional mathematical talent and other relevant traits. Understanding the biological underpinnings of what makes us choose one hand over the other for all our most delicate tasks may help us better understand the basis for these other complex traits.
As 23andWe matures we plan to start focusing more directly on health-related traits. Look for surveys in the very near future that ask about various medical conditions whose genetics is not yet understood. By combining the information customers provide in their survey responses with data from our custom chip, we can look throughout the genome for DNA variations linked to many different traits. This method can help us find genes that no one thought would be involved with a particular condition. For example, genome-wide studies on age-related macular degeneration (a leading cause of blindness) recently surprised researchers by identifying associations with genes that make components of the innate immune system. This gave scientists a whole new pathway in which to search for treatments.
We can’t guarantee that we’ll find something useful or interesting with every analysis that we do; science is a game you have to play a lot of times in order to win. But we can guarantee that we will strive to do the best research and that we will share our findings with the scientific community. By contributing to the body of knowledge on human genetics, we believe we can help bring the dream of personalized medicine a few steps closer to reality.
And all we need you to do is take some surveys.

Joyce Tung

23andWe: The First Annual Update

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My surname – Holden – has gone through many incarnations since it originated in England nearly 700 years ago.   Letters were added, then dropped.   Some branches of my family added an extra &#8220;u&#8221; in the middle, while others changed the pronunciation entirely.   Then, when my ancestors arrived in America over 200 years ago, the name went through a whole new set of changes.   It seems my surname has been in a constant state of change since its inception.
But the story of my surname is not unique.   Millions of Americans have similar stories about ancestors who, upon arriving in the New World, actively changed their names to sound more “American.” German immigrants named Blum became Bloom, KÃ¼sters became Custers, and KÃ¿fers became Coopers. Immigrants from Italy, Sweden, France, and countless other countries underwent similar transformations.   After just a few generations, the original spelling or pronunciation was lost.
Just as our surnames have changed over the centuries, little by little, so too has our DNA.   In fact, some regions of the human genome acquire mutations in such a way that researchers can trace the changes back through time — much like <a href="https://www.23andme.com/topics/ancestry/family-tree/">tracing a surname</a> back for generations in a family tree.   And one region in particular, the Y-chromosome, happens to be passed down from father to son, the same way surnames are inherited in Western culture. That provides a wealth of opportunities for scientists from a variety of disciplines to use the Y-chromosome to unlock history&#8217;s secrets, unravel family trees, and even solve crimes.

The Genetic Legacy of the Vikings
The histories of Scandinavia and the British Isles have been entwined since Vikings from Norway and Denmark landed on the eastern coast of England in the year 792.   Successful raiding parties eventually led to settlements along the eastern half of England.   Today there are remnants of Viking settlements in this region in the form of place names, unique vocabulary, and even surnames.   Last year, <a id="e6_-" title="British geneticists" href="http://mbe.oxfordjournals.org/cgi/content/abstract/25/2/301" target="_blank" rel="noopener noreferrer">British geneticists</a> took surname information from an area formerly settled by Vikings to see if men living there today who had Scandinavian surnames also had evidence of Scandinavian (aka Viking) genetic ancestry.   They analyzed the Y-chromosomes of several hundred men, and, not surprisingly, found that those with Scandinavian surnames did indeed have Scandinavian DNA, at least on the Y-chromosome.   Similar studies of Irish men have also found a modest connection between surnames and Y-chromosome types.
Surname DNA Projects
As we <a id="e_zg" title="reported" href="../2008/11/12/building-roots-from-the-ground-up-genealogy-20/" target="_blank" rel="noopener noreferrer">reported</a> several weeks ago, the field of genealogy has been invigorated by the increasing use of genetic testing to fill in the missing branches of a person’s family tree.   Genealogists are now comparing their Y-chromosomes to those of others with the same surname, to see if a shared surname is also an indication of the shared ancestry.   Within the past few years, <a id="xr16" title="surname projects" href="http://www.dnalist.net/" target="_blank" rel="noopener noreferrer">surname DNA projects</a> have sprung up all across the world &#8211; with hundreds of genetic genealogists digging deep into their genes as they piece together their detailed family trees.
Surnames and Forensics
By far one of the most interesting applications for surname and Y-chromosome comparison is in the field of forensic science.   In 2006, British geneticists found that — for some of the more rare surnames such as Maloy or Rivis, there was a strong connection between surname and Y-chromosome haplogroup.   The authors reasoned that, if DNA were to be recovered from a crime scene, forensic investigators might be able to narrow down the possible perpetrators to a specific subset of surnames.
However, there are several limitations to this idea — namely the fact that most men in the UK have rather common surnames, such as Smith, Green, and Adams.   Men with these surnames have a wide range of Y-chromosome DNA types, so it would nearly impossible for investigators to use the Y-chromosome to locate a suspect.   However, on principle this idea has merit, and further advances along these lines may someday allow investigators to exploit the DNA-surname connection.
One final note: 23andMe customers need not worry that their data will be used in this way – our research database does not include surnames and our <a href="https://www.23andme.com/about/privacy/" target="_self" rel="noopener noreferrer">terms of service</a> do not allow us to share data with law enforcement unless we are legally compelled to. And even if such a situation did arise, we have publicly <a href="http://cyberlaw.stanford.edu/node/5922" target="_blank" rel="noopener noreferrer">committed</a> to resisting legal requests for customer data.

23andMe Blog

23andMe Blog Team

What’s in a Name:  Surnames and the Y-Chromosome

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When the toxins in cigarette smoke are inhaled, lung cells don’t just sit there and take it. A complex network of proteins is activated with every puff. The proteins break down, modify, or pump out as many of the hundreds of cancer-causing chemicals in tobacco smoke as possible.
But when this system fails or falls behind, toxins have a chance to damage cells. New results published online this week in Cancer show that variants in the genes for ABCB1 and ABCC1, two important pump proteins that transport a variety of toxins out of lung cells, increase the risk of lung cancer.
Haijian Wang and colleagues studied 500 lung cancer patients and 517 healthy controls from Nanjing City and the surrounding area in southeast China. They found that, overall, having specific variants in the ABCB1 gene was associated with increased odds of lung cancer.
The researchers also found a variant that increased the odds of lung cancer in women of all ages by 2.57 times and by 1.5 times in those younger than 60.  In those people with a history of cancer in a first-degree relative (parent, sibling or child), the researchers found a variant that increased the odds of lung cancer by 1.91 times.
A final correlation the authors found was for a specific type of lung cancer called adenocarcinoma. The authors say that the rates of this type of cancer have been increasing in the last few decades, as has the amount of a specific carcinogen in cigarette smoke that is dealt with by the ABCB1 protein.
“Because tobacco smoking is the leading preventable cause of cancer and the cancer-prone genotypes of these genetic components are relatively prevalent in the human population, our findings have important implications for the prevention of tobacco smoking-related cancers,” the authors write.

Variants in Genes for Carcinogen Transporters Linked to Lung Cancer

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Before genetics came into the picture, researchers interested in introducing agriculture to Europe had only the archaeological record to go on – a limited collection of primarily stone and bone artifacts that left much room for interpretation. But as researchers began applying population genetics to the question of how farming spread across Europe, beginning with the work of <a id="yenv" title="Luca Luigi Cavalli-Sforza" href="https://www.ncbi.nlm.nih.gov/pubmed/258176?ordinalpos=7&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum" target="_blank" rel="noopener">Luca Luigi Cavalli-Sforza</a> nearly 40 years ago, there began to be hope for a better understanding of how agriculture spread through the continent beginning about 10,000 years ago.
<h2>The Spread of Agriculture</h2>
Decades of genetic research have produced some clarity. But geneticists have also created their own new sources of debate surrounding the spread of agriculture.
Over the years, two schools of thought have jockeyed for dominance: one argues that farmers from the Near East came into Europe around 10,000 years ago, spreading both their knowledge of farming AND their descendants throughout the continent.
Known as the &#8216;Demic Diffusion Model,&#8217; this hypothesis predicts that most of today&#8217;s Europeans trace their ancestry to early farmers from the Near East.   The alternative hypothesis, dubbed the &#8216;Cultural Diffusion Model,&#8217; argues that while the practice of farming likely spread from the Near East into Europe, the farmers themselves did not.   Instead, the technology was passed along from settlement to settlement until it reached northern Europe 5,000 years later. It predicts most modern Europeans should trace their ancestry to the original Stone Age inhabitants of Europe.
<h2>The Balkan Link</h2>
As the debate has continued, newer studies have begun breaking the puzzle down into more manageable pieces, looking at particular regions within Europe to see how farming changed the demographics on a more regional level.
This is precisely what new research published in the European Journal of Human Genetics seeks to do by examining the genetic history of the Balkans in Eastern Europe to work out what was happening there nearly 10,000 years ago.
The study&#8217;s authors, including Stanford professors and 23andMe scientific advisers Drs. Peter Underhill and Roy King focused on the Balkans chiefly because the archaeological record in this area hints at interactions between farmers from the east and the hunter-gatherers who were already living there.   The researchers chose to examine the Y-chromosome, which is passed down from father to son, to see if any traces of such interactions remained in people living in the Balkans today.   They sampled more than 1,200 men from Greece, Albania, Slovenia, and many other countries on the Balkan Peninsula and throughout Eastern Europe.
<h2>Early Haplogroups</h2>
They found three major Y-chromosome haplogroups (clusters of men with deep ancestry along the paternal line). One group pre-dated the arrival of agriculture into the region, a second arrived along with agriculture, and a third fell somewhere in between.
Specifically, more than 60% of those sampled belonged to branches of either haplogroup I or haplogroup R, both of which are believed to have arrived in Europe tens of thousands of years ago.   In addition, a unique branch of haplogroup E is found at levels of 15-25% among the men tested, but only in those people hailing from the southern Balkans (such as Greece or Macedonia).   Finally, up to one-fifth of the men tested fell into haplogroup J, which is common in the Near East and thought to be closely associated with Mediterranean seafarers and agriculture&#8217;s origin and spread.
What do these figures mean?
First of all, it is clear that over half of the men in the Balkans and Eastern Europe belong to haplogroups that pre-date the arrival of agriculture in the area.   These men&#8217;s paternal ancestors likely trace back to the Mesolithic hunter-gatherers.   On the other hand, the 20% of men belonging to Haplogroup J likely trace their ancestry to the same Near Eastern populations where agriculture originated.
<h2>Hunter-Gatherers and Farmers</h2>
So it stands to reason that &#8211; because the authors&#8217; samples contain both hunter-gatherer and farmer haplogroups &#8211; there was likely some kind of interaction between the two populations when they came into contact with each other nearly 10,000 years ago.   More importantly, it reveals that the spread of farming into Europe cannot be pigeonholed into either the Demic Diffusion or Cultural Diffusion Model.   Its spread is far more complex &#8211; and intriguing &#8211; than many initially thought.
But what about the men who traced their ancestry to that sub-branch of haplogroup E, which is typical of North or East Africans; what is it doing in the Balkans?   Haplogroup E has a unique history, stretching back some 40,000 years to East Africa. From where men carrying it expanded into the Nile Valley.   The authors believe this branch of Haplogroup E exited Africa almost 16,000 years ago, well before the arrival of farming, making it to the southern Balkans a few thousand years later.   Men bearing the haplogroup may have been among the first converts to agriculture when Neolithic farmers arrived in the area a few thousand years after that.
So it would seem that by using genetics to piece together ancient interactions between Mesolithic hunters and Neolithic farmers, we are actually left with new questions surrounding the arrival of Haplogroup E.
Who were these men who carried it?   What made them expand from the Nile Valley into the Balkans just before the arrival of farming?   And did their presence in the Balkans influence interactions between the hunter-gatherers and the farmers from the Near East?
Once again, research into the genetic signatures of the first farmers has given us both new answers and new questions.

New Genetic Discoveries Shed Light on the Spread of Farming in Eastern Europe

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Every year, about half of the more than one million people in the United States who have a heart attack survive. But because the first heart attack increases their risk for another one, these people must make major adjustments in their lives to keep their hearts healthy in the future.
In addition to adopting a healthy diet, quitting smoking and losing weight, most people who’ve had a heart attack take medications to help further reduce their risk. Clopidogrel – sold under the trade names Plavix, Iscover, Clopilet and Ceruvin – is a drug commonly prescribed (often in combination with aspirin) to help prevent platelets in the blood from forming clots that can block blood flow to the heart.
Clopidogrel is converted into its active form once it is inside the body. But some people carry genetic variants that reduce the activity of an enzyme central to this conversion process, which in turn reduces the amount of active clopidogrel in the bloodstream and the effectiveness of the drug in preventing clots. Three reports published online this week — two in the New England Journal of Medicine and one in The Lancet — show that genetic variants can increase the chances that a patient will suffer a second major cardiovascular event.

Jessica Mega and co-workers from Brigham and Women’s Hospital and Harvard Medical School in Boston tracked 1,477 subjects who had had unstable angina or a heart attack and were taking clopidogrel.
Their results, published in <a href="http://content.nejm.org/cgi/content/full/NEJMoa0809171" target="_blank" rel="noopener noreferrer">NEJM</a>, showed that those people who carried one or more copies of a function-reducing variation in the CYP2C19 gene that (referred to as *2, *3, *4 and *5) had 1.53 times the risk of having a heart attack, stroke or dying from cardiovascular causes compared to non-carriers. The risk of a stent-blocking clot (in those patients who had stents implanted during angioplasty to keep their arteries open) was increased three-fold.
The second <a href="http://content.nejm.org/cgi/content/full/NEJMoa0808227" target="_blank" rel="noopener noreferrer">NEJM</a> report, from researchers at several Paris hospitals led by Tabassome Simon, showed that in a group of 2,208 heart attack patients taking clopidogrel, carrying two CYP2C19 variants (any combination of *2, *3, *4, or *5) led to a 1.98 times increased risk of heart attack, stroke or death from any cause. Among the 1,535 patients who underwent angioplasty while in the hospital, having two function-reducing CYP2C19 variants increased the risk of cardiovascular events by 3.58 times.
Unlike the study from Mega et al, Simon and colleagues did not see an increased risk in those people with only one copy of a CYP2C19 function-reducing variant.
Finally, Jean-Philippe Collet and colleagues (also from Paris, France) followed the outcomes for 259 young (&lt; 45 years old) heart attack patients taking clopidogrel. Their results, published in <a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(08)61845-0/fulltext" target="_blank" rel="noopener noreferrer">The Lancet</a>, showed that having one or two copies of the CYP2C19*2 variant increased the risk of a second heart attack by 4.54 times. The risk of a stent-blocking clot increased 6.02 times.
Collet et al did not investigate the other CYP2C19 variants included in the other reports.
Although the magnitude of the effect of CYP2C19 variants was different in each report, all three did show that versions of the CYP2C19 gene that reduce its ability to activate clopidogrel also increased the risk of a second cardiovascular event in those patients who have already suffered one. Based on these results, both Simon et al and Collet et al suggest that genotyping patients might be a good alternative to the current practice of monitoring their platelet response to clopidogrel.
But in a <a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(08)61846-2/fulltext" target="_blank" rel="noopener noreferrer">commentary</a> accompanying the report in The Lancet, Dr. Robert Storey of the Cardiovascular Research Unit at the University of Sheffield School of Medicine, UK, argues that testing platelet function in patients is faster than genotyping, and has the added benefit of finding patients who are not responding to clopidogrel due to factors other than CYP2C19 variants, such as age, diabetes, renal failure and cardiac failure.
“Genotyping of patients with acute coronary syndrome is not necessarily the appropriate solution without further work to validate such an approach,” he writes.

Genetic Variants May Reduce Ability of Anti-Clotting Drug Clopidogrel to Prevent a Second Heart Attack

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In genetic anthropology, mitochondrial DNA and the Y chromosome are the major players.
Scientists use these regions of our genome most frequently when tracing ancient and historical human migrations, and they are important tools for genealogists who use DNA to piece together their family trees.
<h2>X Marks the Spot</h2>
But another part of the human genome has recently started to prove itself as a window into our species&#8217; past: the X-chromosome.
Like both the mtDNA and the Y-chromosome, the X is passed from parents to children in such a way that scientists can use it to trace the deep ancestry of our species. However, only recently has the X-chromosome been used this way, and some of the early research has been somewhat inconsistent.
Now, the authors of a paper published in this week’s <a href="https://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.303.html" target="_blank" rel="noopener">Nature Genetics</a> believe they have perfected a way of using the X-chromosome to unravel details about the initial migration of humans out of Africa tens of thousands of years ago. Their results suggest that more men than women were involved in the exodus that initiated the peopling of the entire globe.
<h2>Why the X and not the Y?</h2>
One of the reasons analysis of the X-chromosome has not proven straightforward compared to the mtDNA or the Y-chromosome is that the way the X is passed down from one generation to the next differs depending on the child&#8217;s sex. Fathers pass on their X chromosomes to their daughters, but not their sons, while mothers pass one X chromosome to their children of both sexes. So, while any person&#8217;s X-chromosome came down to them along a specific lineage – just like their Y-chromosome and mtDNA – that path is impossible to trace.
<h2>The XX</h2>
However, the X chromosome does have one distinctive quality. Since men have one and women have two, any population with a 50/50 sex ratio will have three X chromosomes for every four of the 22 paired chromosomes. That means all other things are equal, and genetic diversity on the X-chromosome should be about three-quarters as much as on the non-sex chromosome.
To see if all has been equal in the history of the human species, researchers from Harvard, the Broad Institute, and the National Human Genome Research Institute analyzed the genotypes of people from around the globe. They looked for differences among the populations of Africa, Europe, and East Asia. Though they found the expected 75% X-chromosome diversity ratio within Africans, there was considerably less diversity among European and East Asians on the X compared to their 22 non-sex chromosomes.
Genetic Variation
<h2>What could all this mean?</h2>
First, a decrease in genetic variation is usually a sign of decreased population size.   Because it shows up in East Asians and Europeans but not Africans, the authors believe the decreased variation is a signal of a population bottleneck that occurred after humans left Africa for the first time nearly 60,000 years ago – but before the non-African populations diverged from each other.
However, the decreased genetic variation only seems to show up on the X-chromosome.   This, the authors speculate, may be due to some sort of sex-biased migration.   In other words, when humans first ventured outside of Africa and into Europe and Asia, there may have been more men on the move than women.   Scientists have long observed the same phenomenon when comparing the Y-chromosome to mtDNA; now researchers see the same phenomenon here with the X.

Using X-Chromosome to Trace Prehistoric Human Migrations

Since 23andWe debuted in May, we&#8217;ve asked our customers about all sorts of things: their hair color, <a href="https://www.23andme.com/topics/traits/earwax-type/">earwax consistency</a>, whether they tend to look on life&#8217;s bright side. Sometimes people have been surprised to learn that something like your susceptibility to motion sickness – or even which way the <a href="http://www.genetics.org/cgi/content/abstract/165/1/269" target="_blank" rel="noopener noreferrer">hair swirls</a> on top of your head – may be influenced by genetics.
Now we&#8217;re introducing three new surveys that ask our customers a few more thought-provoking questions that could help science understand more about genetics: 

<ol>
<li>Our new ancestry survey, &#8220;Where are You From?&#8221; inquires about the birthplaces of our customers, their parents and grandparents. We&#8217;re hoping the survey can help us do an even better job of correlating peoples&#8217; genetics to their ancestral homelands. It could also help us address questions geneticists have had little opportunity to ask in the past, such as how regional genetic differences within the United States may reflect the different ethnic backgrounds of the people who settled in the country. And finally, recent papers such as this <a href="http://hmg.oxfordjournals.org/cgi/content/abstract/17/R2/R143?maxtoshow=&amp;HITS=10&amp;hits=10&amp;RESULTFORMAT=1&amp;author1=Gregersen&amp;andorexacttitle=and&amp;andorexacttitleabs=and&amp;andorexactfulltext=and&amp;searchid=1&amp;FIRSTINDEX=0&amp;sortspec=relevance&amp;resourcetype=HWCIT" target="_blank" rel="noopener noreferrer">one</a> suggest that ancestry information can be vital to any study that tries to associate genes and traits.</li>
<li>Our second survey, &#8220;Health Habits,&#8221; asks about things like exercise, diet, smoking and drug use. It&#8217;s not that we want to determine whether there are genetic influences on whether a person smokes (though there probably are) so much as we&#8217;d like to know these things so we can see if they are more likely than genetics to account for the way people respond to certain surveys.</li>
<li>Researchers often struggle to distinguish between the contributions of nature and nurture when they study things like personality, IQ and athletic ability. Our final new survey – &#8220;What Do You Do?&#8221; – tries to account for some elements on the nurture side of the gene-environment equation.</li>
</ol>
These new surveys are a little different from some of the ones our customers have already taken. They&#8217;re not going to tell you if you&#8217;re less optimistic than average, or whether your tendency to sneeze in bright sunlight makes you a freak of nature (It doesn&#8217;t). But they&#8217;re just as critical to helping us reach our goal of advancing genetic research. So if you&#8217;re a 23andMe customer, we invite you to visit 23andWe and take our latest surveys. And if you haven&#8217;t joined the 23andMe community yet, we invite you to read more about <a href="https://www.23andme.com/research/" target="_self" rel="noopener noreferrer">23andWe</a> on our public site.

Three New Surveys from 23andWe Ask New Kinds of Questions

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The complications of type 2 diabetes — damage to the kidneys, nerves, eyes, and cardiovascular system — result from chronically high blood sugar.
While routine blood tests can provide a snapshot of blood sugar levels at one point in time, a more complete picture of long-term blood sugar control is obtained by measuring the extent to which sugar molecules are attached to hemoglobin, the oxygen-carrying protein found in red blood cells.
Measurement of this “glycated hemoglobin” reflects the total amount of sugar blood cells have been exposed to over the preceding eight to 12 weeks.
Clinical trials have shown that elevated, yet sub-diabetic, glycated hemoglobin levels increase risk for type 2 diabetes and cardiovascular disease. But although many studies have looked for genetic variants associated with type 2 diabetes itself, much less work has been done to uncover the genetic determinants of glycated hemoglobin levels.

Guillaume ParÃ© and colleagues from Harvard Medical School and Amgen, Inc., scanned the genomes of more than 14,000 apparently healthy (i.e. non-diabetic women) to look for SNPs that correlate with glycated hemoglobin. Their results, published online today in <a href="https://dx.doi.org/10.1371/journal.pgen.1000312" target="_blank" rel="noopener noreferrer">PLoS Genetics</a>, show that a variant in a gene never before linked to diabetes, HK1, is associated with glycated hemoglobin levels. Three other genes previously linked to diabetes and blood glucose concentration — GCK, SLC30A8 and G6PC2 — also harbored significantly associated variants.
According to the authors, the discovery of a link between the HK1 gene and glycated hemoglobin levels paves the way for further studies of the role of this gene in glucose metabolism and diabetes. The HK1 gene encodes the enzyme that carries out the first step of sugar breakdown in many cells throughout the body.
Together with the four variants, the researchers found to account for only a very small proportion of the total variance in glycated hemoglobin levels in the population — just 1.4%. Age, body mass index (BMI) and menopause status, on the other hand, explain about 9.5% of the variance.
Glycation of proteins in tissues other than red blood cells is thought to underlie the long-term complications of diabetes. The authors say it remains an open question whether the differences in glycated hemoglobin associated with the genetic variants identified in this study are paralleled in other parts of the body.
The SNPs associated with glycated hemoglobin levels are listed below by rsid#, gene, and the version associated with higher levels.
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Genetic Variants Linked To Blood Sugar Level

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More than two million Americans participate in clinical trials every year. Many may not realize when they sign up that the investigators running the trial are not required to tell them the results.
<h2>Re-Contacting Research Participants</h2>
The same goes for many genetic studies. In fact, there is often a specific prohibition against re-contacting participants once their samples have been taken.
At the very least, not informing participants of study results seems disrespectful of those who give of themselves to benefit medical research. More worrisome, it can mean that trial volunteers are missing out on the chance to learn information that could be important to their health.

<h2>Leveraging Online Tools</h2>
Changing the way research is done is no simple task. However, researchers at the University of Rochester Medical Center studying an experimental Huntington’s disease drug have shown that using a combination of targeted electronic communications and personal outreach can be a very effective way of disseminating clinical trial results to volunteers.
After analyzing the drug trial results (they turned out to have no effect), the researchers contacted participants by email and through various Huntington’s disease support groups and called them personally. There was also a teleconference in which study participants could ask the investigators questions.
Their results, published in the December issue of the <a href="http://archneur.ama-assn.org/cgi/content/short/65/12/1590" target="_blank" rel="noopener noreferrer">Archives of Neurology</a>, showed that within 24 hours, almost half of the study participants were able to learn the trial&#8217;s results. They reported great value in receiving personalized and accurate information from the research team.
<h2>Sharing Results</h2>
In the November issue of Genetics in Medicine, researchers from the Genetics and Public Policy at Johns Hopkins University showed just how hungry people are for their results.
In a survey of more than 4,600 people asked to consider whether or not they would take part in a large nationwide genetics study of 500,000 people, researchers found that three out of four people would be less likely to participate if they knew they would not receive their individual research results.
A scale project proposed in the John Hopkins survey could probably not rely on personal phone calls to inform participants of their results. The University of Rochester team benefited from having only a few hundred subjects who needed to be contacted. However, emails and posting on websites could certainly be used to satisfy subjects&#8217; demand for information.
“This eagerness suggests that researchers may have to look for practical ways to return results and abandon the paternalistic stance of protecting people from their research data,” the Johns Hopkins researchers wrote.
<h2>23andMe Research</h2>
We couldn’t agree more. That’s why we started <a href="https://www.23andme.com/research/">23andWe</a>, a new way of doing genetic research in which we hope to mobilize our customers as collaborators, advisers, and participants.
Sometimes, we’re able to return results right away. By answering just a few questions, you can find out if you’re an optimist or right-footed — and how you compare to everyone else who’s taken the survey.
But in addition to being exciting and fun, 23andWe surveys are designed to collect essential data for scientific research. We can’t know where this will lead us, but you will want to see how your data makes a difference. That’s why we’ll share the results of all our research and how your contributions are making an impact.

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