You may have already heard about a new feature 23andMe is offering its customers, called Relative Finder. With the launch of our new Ancestry Edition, we wanted to tell you more about it.

Don’t just settle for two branches of your family tree…

Relative Finder is a breakthrough feature that uses autosomal DNA to help you find relatives from all parts of your family tree. With Relative Finder, you can grow your family tree like never before, and discover relatives you never knew you had.

Relative Finder is available to people who buy the Ancestry or Complete Edition of the 23andMe service.

How is Relative Finder Different?

Until now, DNA genealogy tests could only tell you about a small part of your family tree, because they only used DNA from the Y chromosome and mitochondria. By using autosomal DNA, Relative Finder can trace any ancestor, no matter where they are in your family tree.

What’s so special about autosomal DNA? The autosomal chromosomes, which make up most of our DNA, have the unique property of randomly mixing in specific ways when passed down from parent to child. The result is that we are a mosaic of DNA segments that we inherited from our ancestors.

…With Relative Finder, find relatives from all branches of your family tree!

To give an example of the benefits of using autosomal DNA for learning about your ancestors, let’s consider your four grandparents. When looking at the Y chromosome (if you are male), you can trace your lineage through your paternal grandfather. When looking at the mitochondria, you can trace your lineage through your maternal grandmother. But this is only half of your grandparents! By using autosomal DNA, you can trace the lineages through all four grandparents. Extending this back 10 generations, instead of two ancestors detectable via Y and mitochondria, autosomal DNA can give you access to over 1000 ancestors and their descendants.

Relative Finder in Action

Relative Finder takes advantage of autosomal DNA by looking for shared segments with other 23andMe customers, which indicate a common ancestor. We list your closest matches first, but also let you sort and filter on other criteria you find important. Interested in relatives living abroad, or a particular Y or mitochondrial haplogroup? We can help you find them.

Take your time — users with European ancestry often have more than 100 matches, and users with Ashkenazi Jewish ancestry often have more than 1000! As the 23andMe database grows, you’re likely to get even more matches.

Once you’ve found an interesting match, you can take the next step and contact them directly. Go ahead: Introduce yourself to that fifth cousin who lives in Macedonia, or your ninth cousin who lives just down the street. With Relative Finder, you can discover more about your ancestry than you ever thought possible!

We Want You.

Up to now, we’ve been testing and tweaking Relative Finder extensively, both internally and with feedback from genealogy enthusiasts. Starting today, we are opening up that testing to all 23andMe customers who want the opportunity to experience Relative Finder. During the remainder of this beta period, participants can instantly contact any potential relatives also participating in the beta.

By participating in the Relative Finder Public Beta, you will get early access to this revolutionary new feature. In return, we hope that you will send us feedback, suggest improvements and — most importantly — share your success stories.

We hope you enjoy taking your family tree to a whole new level with Relative Finder. After all, you never know who you might find.

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Some people want to know everything their genetics can tell them, while others are interested in only part of the story.  That’s why starting next week, on Thursday November 19^th , we will begin offering our service as two distinct products to better meet the needs of our customers:  The 23andMe Ancestry Edition and The 23andMe Health Edition.  If you are interested in both the ancestry and the health aspects of your genetics, you’ll have the option of purchasing the combined 23andMe Complete Edition.

Prices for all versions of the 23andMe Editions will be changing November 19^th, but if you act quickly you can get our Personal Genome Service, which will automatically be converted to the Complete Edition, for the lower price of $399.

23andMe Ancestry Edition – $399

23andMe has always offered the most comprehensive look at your DNA ancestry.  With the 23andMe Ancestry Edition we will continue to provide maternal, paternal and autosomal ancestry information, but we’ll also be adding an exciting new feature: Relative Finder.  This innovative tool will allow you to grow your family tree like never before, and discover relatives you never knew you had.

The Relative Finder algorithm compares your SNPs to those of other 23andMe customers.  Using the frequency and length of shared DNA segments, we calculate whether there is a possible relationship between two people. What you’ll see is a list of these potential relatives (with their identity and yours kept anonymous) who you can then directly and anonymously contact.  Some of our early testers have already found new relatives and identified the great-great-great-great-great grandparent that they have in common!

To complement Relative Finder we’ll also be launching a new ancestry lab feature, Family Inheritance: Advanced.  This tool will allow you to look at your Relative Finder matches in more detail and trace segments of DNA across multiple generations.

Raw data browsing and download will be available only for Y and mitochondrial SNPs for customers who purchase the 23andMe Ancestry Edition.

23andMe Health Edition – $429

With 23andMe, you can use your DNA to help you plan for the important things in life.  We give you access to information on genetic variations and mutations that may influence your risk for various conditions, report carrier status for inherited diseases, or affect how you react to certain medications.

With the launch of the 23andMe Health Edition we are releasing 13 new carrier status reports.   These reports will help you know more about what may be in store for the next generation.  We are expanding our cystic fibrosis panel report to cover the full panel of mutations recommended by the American College of Medical Genetics, as well as several additional mutations.  We will also be providing data for most of the mutations routinely screened for in the Ashkenazi Jewish population, including those associated with Tay-Sachs disease, Canavan disease and Bloom’s syndrome.

We are also continuing to expand our drug response offerings.  The next report to come out, Pseudocholinesterase Deficiency, contains information for anyone who will be undergoing surgery.

23andMe’s scientists are constantly sifting through the scientific literature, adding to existing articles and creating new reports as genetic research advances.  Customers who purchase the Health Edition will have access to these regular updates.

Raw data access will not be available to customers who purchase the 23andMe Health Edition.

23andMe Complete Edition – $499

If you’re interested in seeing all your DNA has to offer, you can purchase the 23andMe Complete Edition.  You’ll get all the features of both the Health and Ancestry Editions, along with the ability to browse and download all of your genetic information.  This means you’ll be able to see what your data means in the context of the latest in genetic research through our regular SNPwatch posts here in The Spittoon.

Start with Health or Ancestry, Upgrade Later

You can always buy one version, either the Health or Ancestry Edition, and upgrade to the Complete Edition at a later date.  You won’t even need to spit again!

Upgrading from the Health Edition will cost $100.  Upgrading from the Ancestry Edition will cost $150.

Buy Now Before the Price Goes Up!

If you are a current customer, your account will be converted to the Complete Edition automatically.  Customers who purchase 23andMe’s Personal Genome Service before November 19^th for the current price of $399 will also automatically have their accounts converted to the 23andMe Complete Edition after that date — a savings of $100.  If you purchase now, you can also save $25 on each kit you buy when you buy two or more at full price.

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The “stomach flu” isn’t really the flu at all. It’s actually viral gastroenteritis, and its most common cause is a group of viruses called noroviruses. No matter what you call it, the illness is highly contagious and very unpleasant — symptoms include abdominal pain, vomiting, and diarrhea. In close quarters, a norovirus outbreak can quickly spread from person to person, earning the sickness the nickname “cruise ship disease.”

Norovirus is such a problem on cruise ships, in fact, that the Centers for Disease Control and Prevention (CDC) has a Vessel Sanitation Program in place to help control outbreaks.  But the results of a new study, published in this month’s issue of the journal Clinical Infectious Diseases, shows that even stricter criteria for cleanliness may be in order.

Analysis of data from 56 cruise liners evaluated between 2005 and 2008 shows that only 37% of 8,344 toilet area objects (toilet seat, flush handle or button, toilet stall inner handhold, stall inner door handle, restroom inner door handle and baby changing table surfaces) in 273 randomly selected public restrooms were cleaned on a daily basis.  More than half of the ships had overall “thoroughness of disinfection cleaning”  (TDC) scores less than 30%.  Several of these low-scoring ships had nearly perfect CDC sanitation scores.  TDC scores were substantially lower for the three ships that had a norovirus outbreak within four months of evaluation compared to those ships that did not.

Why bring this up in the Spittoon?  A lucky few have less to worry about when planning a seafaring vacation: variation in the FUT2 gene renders some people resistant to the most common strain of norovirus.  Check out the 23andMe Norovirus Resistance Report to learn more!

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Medco Health Solutions, Inc., announced this week that it will conduct a clinical trial to assess whether clopidogrel bisulfate (Plavix®, Bristol-Myers Squibb and Sanofi-aventis) is just as effective as the newer drug prasugrel (Effient™, Eli Lilly and Company) in people who lack a genetic variation that inhibits their metabolism of clopidogrel. This new research has important implications for both patient safety and health care costs.

Both clopidogrel and prasugrel are anti-platelet medications that reduce the ability of blood to form clots. The drugs are used to reduce the risk of a heart attack and stroke in people who have suffered from a recent cardiovascular event, and in those who have peripheral artery disease, unstable angina or a stent.

Variations in the CYP2C19 gene that prevent clopidogrel from being converted into its active form in the body have been shown to prevent patients from receiving the drug’s full benefit. People with these gene variations who are taking clopidogrel may be at a higher risk for heart attacks, strokes and death from cardiovascular causes than those whose genetics allow them to metabolize the drug.

(Prasugrel is metabolized through a different biological pathway than clopidogrel, and is not affected by CYP2C19 variants.)

23andMe customers can see their data for several important CYP2C19 variations in the ‘Clopidogrel (Plavix®) Efficacy’ Clinical Report.

Medco’s study will assess patients’ rates of nonfatal heart attacks, nonfatal strokes and cardiovascular deaths after six months of treatment with either clopidogrel or prasugrel. Researchers will be looking to see if there is any difference between those patients who are taking clopidogrel, and whose genetics predict that they should be able to metabolize it—and those patients who are taking prasugrel.

“Plavix is going generic in 2011 and if found to be equally effective as Effient for patients who have a normally functioning version of the CYP2C19 gene, the study provides the evidence that would allow these patients to opt for a lower cost treatment,” said Medco’s chief medical officer Dr. Robert Epstein in a press release.

Former U.S. Secretary of Health and Human Services Michael O. Leavitt was quoted in the Medco press release as saying, “Studies like this are necessary to show how innovation can derive greater value from what we spend on health care.  A simple test can identify a drug’s ability to work for a particular patient or point them to another one that could provide a better outcome. Personalized medicine is the new frontier in making medication safer and more effective. What we learn from this study, and others like it, will save lives and money.”

Patients aren’t the only ones who would save if Medco’s research shows that the soon-to-be generic clopidogrel is an effective choice for them. An Associated Press story notes that generic drugs are more profitable for Medco than higher-priced brand name products.

Comparative effectiveness research has received a lot of attention in the United States health care debate lately.  Some worry that it will result in policies that are not in patients’ best interests.

“We need to be mindful of the goal of comparative effectiveness research and not lose all that we have gained in understanding how individuals differ and how that could be factored into better diagnostics and preventive strategies,” said National Institutes of Health (NIH) director Francis Collins, speaking at a recent American Association for the Advancement of Science forum on personalized medicine.

Collins recommended that genetic factors be included in comparative effectiveness research (as is the case in Medco’s study), to make sure that treatments that work for specific groups of patients are not “lost in the wash by considering everybody equivalent.”

The Genotype-Guided Comparison of Clopidogrel and Prasugrel Outcomes Study (GeCCO) is part of Medco’s “Genetics for Generics” program and is registered with the NIH.

Related Spittoon Posts:
More Evidence that Genetics Can Reduce the Efficacy of Anti-Clotting Medication Clopidogrel
SNPwatch: Genetic Variants May Reduce Ability of Anti-Clotting Drug Clopidogrel to Prevent a Second Heart Attack

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There are over 50,000 people in North America who define themselves as Hutterites, though you probably have never met one. One of the main branches of the Anabaptists, Hutterites live in self-sustaining communities throughout the rural northwestern United States and Canada.

Like their sister branches, the Amish and the Mennonites, the history and culture of the Hutterites have long fascinated scholars. But there have been few forays into the genetics of this unique community — until now. In the October 21 issue of the European Journal of Human Genetics, geneticist Irene Pichler and an international team of experts set out to unravel the genetic history of the Hutterites.

The history of the Hutterites goes back over 500 years, to a stretch of land in northernmost Italy called Tyrol. It was here that a small group of people, led by local hatmaker Jakob Hutter, formed a religious community centered on absolute pacificism and communal living. The Hutterites, as they came to be known, were part of the Radical Reformation, which rejected the teachings of both the Roman Catholic Church and the more moderate Protestant movement.

Due in no small part to their adherence to pacificism, the Hutterites soon became victims of persecution and expulsion. They moved several times to new settlements in central and eastern Europe. Their numbers dwindled significantly. By 1755, only 67 Hutterites were living in Transylvania.

By 1874, the Hutterites had had enough, and over 1,200 departed Europe for the rich farmland of western North America. They settled in present-day South Dakota, setting up several colonies. Today they are living much as they were upon their arrival in both the United States and Canada.

The Hutterites’ distinct and well-documented history over the past several centuries could make for an equally unique genetic history. Would traces of their history be etched in their genes? This is exactly what Pichler and her team sought to find out.

Pichler’s team focused on two segments of the human genome: the mitochondrial DNA and the Y chromosome. Because mitochondrial DNA (mtDNA) is passed down along the mother’s line, and the Y chromosome is passed down along the father’s line, the team could use both to paint a detailed picture of the Hutterites’ genetic history. The research team also analyzed DNA from several Central European groups for comparison, as central Europe is the Hutterites’ ancestral home.

Pichler proposed that the same constant reductions in population size that continually plagued the Hutterites, must also show up in their DNA. And that is exactly what happened. Among all the Hutterite DNA samples analyzed, the authors found only 11 distinct types of mtDNA (called haplogroups), and only 10 distinct Y-chromosome haplogroups. In other words, the Hutterites’ ancestral maternal and paternal lines trace back to just 21 individuals. This is an extremely small number of founders, and is further evidence that the large drops in Hutterite population size over the centuries are found in their genes.

Pichler and her team further discovered that the haplogroups among the Hutterites are vastly different from those found among central Europeans. For example, 30 percent of Hutterites belonged to a single haplogroup called X2c1 — which is virtually absent in Europe. This shows that even while the Hutterites lived in Europe, their genetics were vastly different from their non-Hutterite neighbors.

Centuries of isolation from the rest of Europe, followed by their massive migration to a new continent and continued isolation, have clearly defined the Hutterite people. And this study has revealed the history and genetics of this community as one of the most unique in North America.

Photo courtesy of Wikimedia Commons.

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Here’s how it goes for me: a few afternoons a year, usually when I haven’t slept or eaten right, but sometimes for no apparent reason, I begin to sense a pressure behind my left eyebrow and to feel queasy. By now I know what’s coming, and I resign myself to another miserable evening and a coming day or two lost to indistinctness. I rush home and secrete myself in the coolest, darkest spot I can find, because for each of my senses the volume seems to have been cranked to amphitheater-level. I lie there for four or five hours, a dog on a leash, thinking grim thoughts and, despite myself, yelping every now and again when the pain ratchets up. Perhaps you know somebody with migraine and are familiar with the vocabulary they use to capture the experience: ‘throbbing’, ‘nauseating’, ‘excruciating’ and the like. All true. Respite comes only when my stomach has had too much and returns my lunch — normally one wants to avoid this outcome, but here I welcome it, court it even, which I’ve always found darkly funny. Then I fall into a dreamless sleep. While some don’t have it as bad as me, many have it far worse.

With the launch of our new migraine headache survey today, we at 23andMe invite you all to share your headache experiences, whether you’re one of the lucky few who’s never had even a little one or someone who must deal with the threat of migraine pain on a daily basis.  You needn’t be a 23andMe customer to take the survey (although we recommend it). All you need is a free 23andMe account.

Migraine headaches are nasty things. The common feature is a terrible pulsing pain emanating from inside the skull, usually just on one side, but apart from this everyone experiences them a bit differently. Some unlucky folks get them every day, while others get them just once a year. Migraines can last for a few hours or can pound on for days at a time. Then there is the menagerie of symptoms that can accompany the headaches, including nausea, vomiting, visual or aural illusions, and aversion to light, smell, touch and/or sound. Perhaps most variable across people are the causes of the headache, or triggers. For one person the triggers might be red wine or nuts, for another they might be stress, bright lights, or noise.

There is a wide array of treatment options for migraine. With guidance from their doctors, most migraine sufferers nowadays are able to find partial or full relief from their headaches. Despite the effectiveness of these treatments, the basic biology of the disease is not well-understood¹,  and migraine continues to exact a tremendous physical and economic toll on our society².

Two prominent migraine researchers have suggested that the blame for the slow progress in understanding migraine lies with a systemic lack of public funding for migraine research. They argue that the relatively recent, and incomplete, acceptance of migraine by the medical and research communities as a genuine medical problem, as opposed to mere melodrama, has led migraine’s funding to lag well behind that for diseases of similar impact. For example, they estimate that while $13.80 is spent for each sufferer of asthma, just 36 cents of federal research funds are spent per migraine sufferer.

The genetics of migraine are also only partially understood. That’s where our new survey comes in. Our community-based research program 23andWe seeks to empower the public to engage in genetic research from the ground up. We know our efforts cannot substitute for proper federal support of migraine research, but evidence of great public interest, plus a new finding or two, would add to our understanding of the disease and potentially send a message to Washington.

With all haste, then, please head over to the new migraine survey and be counted!

Footnotes:

1. What is understood of its biology and chemistry is fascinating, and summarized well here.
2. Nearly 40 million people in the US, and a similar number in Europe, suffer from migraine, roughly one in every ten people. Migraine occurs in women about three times more commonly than in men. Migraine is estimated to cost  around $23BN/year in the US and Euro27BN/year in Europe in direct medical costs and in indirect costs, such as lost productivity.

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The Near East – a swath of land that encompasses the Arabian Peninsula, the Levant, and everywhere in between – has been populated by humans longer than anywhere else in the world save Africa. It is where agriculture was born and spread into Eurasia. It is where the ancient civilizations of Mesopotamia and Egypt evolved and flourished. And it is where a particular paternal haplogroup, J1e, arose about 10,000 years ago.

Paternal haplogroups define a person’s all-male ancestry (i.e. the origins of your father’s father’s father, etc.), and are passed down from father to son via the Y chromosome. Haplogroup J1e has long interested experts because it seems to have expanded and flourished in the harsh deserts of Arabia. Today it is quite common among Bedouin nomads from Saudi Arabia, United Arab Emirates, and Oman, as well as in men from Turkey, Ethiopia, and the Levant.

In 2008, scientists at Stanford University proposed that the presence of J1e throughout the Near East could be tied to the nomadic hunter-herders who have dotted the region for thousands of years. In the October 14 issue of the European Journal of Human Genetics, these same scientists – including 23andMe consultants Roy King and Peter Underhill and 23andMe scientist Brenna Henn – test this theory with a little help from the field of linguistics.

The authors analyzed the DNA of more than 500 men from nearly 40 locations throughout the Near East. While many of these men belonged to haplogroup J1e, there were small genetic variations within J1e based on exactly where these men lived. For example, J1e samples from Turkey were slightly different from those in Oman.

When the authors examined differences among the ancient peoples of the Near East, they discovered that the languages spoken in different parts of the region were quite distinct. Until the Arabic swept across the Near East more than 1,000 years ago, there were dozens of languages spoken in the region: Aramaic in Syria, Babylonian in Iraq, and Canaanite from Lebanon to Jordan. The majority of these tongues are now extinct, but all belong to the same Semitic language family, to which Hebrew and Arabic also belong.

The authors reasoned that the history of these ancient languages may be tied to that of the people who spoke them. The history of these ancient people could be deciphered further by examining their genetic ancestry via paternal haplogroup J1e.

The researchers’ combined analysis of the J1e types and the ancient Semitic languages revealed some startling results. The authors found that J1e arose in Anatolia (present-day Turkey), expanding southward toward Arabia 10,000 years ago.

Limited archaeological evidence supports such an expansion, when hunter-gatherer groups, using bow-and-arrow technology and with the help of domesticated dogs, headed south into the heart of the Near East. Soon after they began expanding, the hunter-gatherers took up herding, domesticating animals like cattle and goats.

The linguistic evidence lends additional support. The common ancestor of all Semitic languages, called proto-Semitic, originated about 7,500 years ago, just as J1e was expanding. More importantly, the spread of proto-Semitic coincides with the spread of hunter-herders across the Near East.

So what does all this mean? The expansion of haplogroup J1e is closely tied to the expansion of the Semitic languages. And they are both linked to the expansion of hunter-herders, who journeyed from Anatolia southward into Arabia thousands of years ago. We now know just a little bit more about the ancient history of this fascinating region.

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How do you get three billion pairs of As, Cs, Ts and Gs—about six feet worth of DNA—into the nucleus of a tiny cell?

Most students of biology would answer by saying that this is accomplished by tightly coiling up the DNA.

Oh yeah?  Well, how is it coiled?

As cells perform different functions and respond to different environmental signals, proteins that help turn genes on and off need to quickly gain access to different parts of the genome.  That means DNA needs to be arranged in such a way that it won’t get all tangled up.  Packing DNA like luggage at the end of a vacation, with everything smashed together and shoved in any which way, just won’t cut it.

Using a new technique called “Hi-C,” researchers at Harvard, MIT and the University of Massachusetts appear to have solved the riddle. Their results, published today in the journal Science, show that nature has devised quite an elegant storage solution.

Equilibrium (top) and fractal (bottom) globules. Nearby regions on a chain of DNA are indicated using similar colors. The equilibrium globule is highly entangled; regions nearby along the chain are far apart in 3D. In the fractal globule, regions nearby along the chain are also nearby in 3D. Images: Leonid A. Mirny and Maxim Imakaev

The scientists first treated cells with formaldehyde to freeze the DNA in place.  They then used enzymes to break the DNA apart and put it back together in a different configuration.  A final step of sequencing allowed them to identify pieces of DNA that are naturally close together in the nucleus.

“We made a fantastic three-dimensional jigsaw puzzle and then, with a computer, solved the puzzle,” said co-first author Nynke van Berkum in a statement.

Two important aspects of DNA organization emerged.  First, there are two main compartments in the nucleus – one for DNA that is in use and one that acts as a storage facility for unneeded sequences.

“Cells cleverly separate the most active genes into their own special neighborhood, to make it easier for proteins and other regulators to reach them,” said one of the paper’s senior authors, Job Dekker of UMass Medical School, in a statement.

The other striking aspect of the nucleus is that chromosomes appear to be folded up into an arrangement called a fractal globule, which the authors described as a “beads-on-a-string” configuration.  Multiple rounds of “crumpling” of the DNA into beads leads to a “globule-of-globules-of-globules.”

Previous models suggested that DNA was in a more random arrangement called an equilibrium globule.  This configuration, however, is known to be prone to dense knotting.  Fractal globules are knot-free.

Image Source: Harvard School of Engineering and Applied Sciences

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The princes of early 20th century Europe had a problem.  The source of their wealth and power — the royal blood coursing through their veins — could also sentence them to an early death.

A mutation that spontaneously arose in the DNA of Britain’s Queen Victoria doomed many of her male descendents to the bleeding disorder known as hemophilia. The mutation is known to have been on one of her X chromosomes, but because it didn’t last beyond the fourth generation scientists have never been able to tell which type of hemophilia plagued the princes of Europe.  Now researchers studying the remains of the Romanovs, the Russian royals killed at the start of the Bolshevik revolution, appear to have finally identified the “royal disease.”

Empress Alexandra, wife of Emperor Nicholas and granddaughter of Queen Victoria, is known to have been a carrier for the royal hemophilia mutation because her son, Crown Prince Alexei, was afflicted with the disease. By analyzing the X chromosome DNA in Alexandra’s remains, Evgeny Rogaev and colleagues uncovered a tiny, single-base DNA change in the gene that encodes factor IX, an essential blood clotting protein.

This result, published online today in Science Express, indicates that the royal families of Europe suffered from hemophilia B.  This form of the disease is about seven times less common than classic hemophilia (also called hemophilia A), which is caused by mutations in the gene that encodes another clotting protein, factor VIII.

As expected, when the researchers looked at Alexei’s DNA, they found that his X chromosome contained the factor IX mutation.  DNA from remains presumed to be from Grand Duchess Anastasia also showed evidence of this factor IX mutation, meaning that like her mother she was a carrier for hemophilia.  Had this young girl really escaped execution, as was rumored for many years, any sons she had would have each had a 50% chance of continuing on the tradition of the royal disease.

Image:Permission of the State Archives of the Russian Federation

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Inflammatory bowel disease (IBD), which can appear as either ulcerative colitis or Crohn’s disease, damages the lining of the digestive tract and leads to abdominal cramps, incomplete digestion and nutritional deficiencies.

Previous research on IBD gave researchers reason to suspect that the CD39 gene, which is involved with inflammatory responses and immunity, may play a role in IBD. Researchers at Harvard University, led by Simon Robson, found further evidence for this gene’s involvement when they removed it from a group of mice. Compared to normal animals, the genetically engineered mice were more susceptible to a drug that causes colitis symptoms similar to those experienced by humans. The results were published this week in the Proceedings of the National Academy of Sciences.

With these animal model results in hand, the researchers turned their attention to humans. They searched a database of genetic information for DNA variants that are predicted to affect how much protein is made from the CD39 gene. One SNP in particular, rs10748643, stood out. Not only did the A version of this SNP correlate with lower CD39 protein levels, but it was also associated with risk for Crohn’s disease. The researchers determined that one copy of A increased the odds of Crohn’s disease by 1.14 times, while two copies increased the odds by 1.3 times.

(23andMe customers can see their data for rs7071836, a SNP that is perfectly linked to rs10748643, by using the Browse Raw Data feature. The A version of rs7071836 is equivalent to the riskier A version of rs10748643.)

Although the study focused only on Europeans, the authors believe their results will also be relevant to people of other ethnicities. The A version of rs10748643 that is associated with increased odds for Crohn’s disease in Europeans is also associated with lower levels of CD39 protein in people with African, Chinese and Japanese ancestry. The importance of this SNP may vary among ethnic groups, however, because the prevalence of the A version differs.

The researchers suggest that future studies will help define exactly how CD39 influences IBD and identify other SNPs that may influence risk for the disease.

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 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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