Atrial fibrillation (AF) is the most common irregular heart rhythm, affecting one in four people over the age of 40. While not usually life-threatening on its own, individuals with the condition are at increased risk of stroke and heart failure. AF appears most frequently in older, male individuals with a history of obesity or cardiovascular problems, but some people develop it at a young age and with no obvious heart disease. This type of AF, known as “lone” AF, tends to run in families but is otherwise difficult to diagnose.

Previous studies covered by The Spittoon have linked common genetic variants to AF, but these studies have focused mainly on the typical, later-onset type of AF. Led by Patrick Ellinor and Stefan Kaab, a group of researchers from the United States and Europe investigated the genetic basis for lone AF in a group of about 1,300 people of European ancestry with the condition and more than 12,000 people without AF. Their study, published this week in Nature Genetics, connected the genetic variant rs13376333 with increased risk of lone AF.

In their analysis, each copy of the T version of rs13376333 increased the odds of lone AF by 1.52 times compared to two copies of the C version. The T version was also associated with an increased risk of typical AF, but the effect was smaller – only 1.13 times higher odds of having the condition for each copy.

(23andMe Complete Edition customers can check their data for rs13376333 using the Browse Raw Data feature.)

The variant is located near KCNN3, a gene that codes for an ion channel responsible for controlling the movement of potassium in and out of cells. KCNN3 ion channels in particular are found in “excitable” tissues such as the brain and heart. In mice, abnormalities in the behavior of the KCNN3 gene have been associated with increased blood pressure, but the exact role of KCNN3 in the human heart is unclear. Further research is needed to explore whether KCNN3 may have therapeutic applications for treatment of AF.

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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Leprosy is a chronic, disabling disease caused by a bacterium (Mycobacterium leprae) that infects only humans and armadillos. The disease affects the skin and peripheral nerves, leading to sores, numbness in the limbs, muscle weakness, and, in severe cases, disfiguring nodules on the skin. Known since biblical times, leprosy was highly stigmatized until the latter part of the 19^th century, when the Norwegian doctor Gerhard Hansen discovered that it was caused by a microorganism.

Although multi-drug therapy has cured millions of people of leprosy in recent decades, hundreds of thousands of new cases still occur per year, mostly in developing countries. Finding a way to eradicate the disease is therefore considered important for reducing the number of preventable disabilities worldwide.

Because Mycobacterium leprae is specific to humans and cannot be grown in lab dishes, research into factors influencing disease susceptibility and clinical outcomes has been limited. But the host environment as well as the bacterium itself can affect the course of the disease; in other words, human genetic factors may play an important role in determining who is more susceptible to infection. Since leprosy has been shown to cluster in families, scientists suspect that much of the variability in disease susceptibility and symptoms stems from diversity in individual human immune systems rather than differences between and within strains of the bacteria.

In a new study published today in New England Journal of Medicine, a team of researchers reports new human genetic factors associated with susceptibility to leprosy in Asians. Led by Fu-Ren Zhang of the Shangdong Academy of Medical Sciences in China and Jian-Jun Liu of the Genome Institute of Singapore, the scientists tested 93 variants across an estimated 50 genes in 3254 Chinese individuals with leprosy and 5955 Chinese individuals without the condition. Their analysis identified variants in seven of these genes to be significantly associated with leprosy.

“The discovery of these genes is a major breakthrough for research in leprosy and infectious diseases in general, and will be significant in the early diagnosis and development of new treatments,” said Dr. Liu in a press release.

The strongest of the associations were rs602875 in HLA-DR-DQ, rs3764147 in C13orf31, and rs9302752 in NOD2. In addition, some of the genetic variants were more strongly associated with a form of leprosy that results in more severe symptoms, known as the multibacillary form. These included rs9302752 in NOD2 and the variant rs1491938 in LRRK2.

(23andMe Complete Edition customers can check their data for SNPs reported in this study using the Browse Raw Data feature. See table at the end of this post.)

Altogether, five of the seven genes identified in the study could be shown to interact biologically in the context of immune response to infection. Two of these five genes, NOD2 and TNFSF15, harbor genetic variants that are also associated with Crohn’s disease (see 23andMe’s report on this condition). Crohn’s manifests some common features with leprosy at the cellular level and other researchers have suggested that mycobacterial infection may be a risk factor for Crohn’s. The findings reported by Zhang and Liu and their colleagues provide additional evidence for shared disease mechanisms between Crohn’s disease and leprosy and may increase the range of treatment options for both conditions.

Variants significantly associated with leprosy in individuals of Asian ancestry

* As reported on the 23andMe website through the Browse Raw Data feature.

** Effect only applicable to the multibacillary form of leprosy. LRRK2 is better known as a susceptibility gene for Parkinson’s disease (see 23andMe’s report on this condition). Interestingly, PARK2, another gene linked to Parkinson’s, was associated with leprosy in earlier studies. The reason for the connection between Parkinson’s and leprosy is unclear, though researchers have speculated that some of the same treatments may be effective for both conditions.

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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Multiple sclerosis (MS) afflicts the central nervous system, causing unpredictable and varying symptoms that differ from person to person. About one in 700 people in the United States is affected by the disease. Although there is currently no cure for MS, there are treatments that can slow the progression of the disease and enhance the quality of life for people who have this condition.

Researchers have identified several genetic variants in the HLA region of the genome –an area containing many genes involved in immune system function – that seem to affect MS symptoms, disease severity, and response to treatment. One of these variants is in the HLA-DRB1 gene. Known as HLA-DRB1*1501, this variant is associated with increased risk for MS, though exactly how it is involved in development of the disease is unclear.

In a report published online today in the journal Archives of Neurology, a team of researchers led by Drs. Madeleine Sombekke and Chris Polman of Vrije University in Amsterdam uncovered a clue which may elucidate the connection between the HLA-DRB1*1501 variant and multiple sclerosis. They analyzed *1501 and other genetic variants in 150 Dutch individuals with multiple sclerosis to see if any of the SNPs were associated with variation in brain and spinal cord lesions.

One SNP in particular, rs3135388 (used as a proxy for HLA-DRB1*1501), was associated with spinal cord lesions. People carrying at least one copy of the A version of rs3135388 had significantly more spinal lesions and had more segments of the spinal cord affected than people with two copies of the G version.

(23andMe Complete Edition customers can check their data for rs3135388 using the Browse Raw Data feature.  This SNP is also part of the Multiple Sclerosis Research Report available to Health and Complete Edition customers.)

MS is believed to be an autoimmune disorder – wherein the immune system attacks the body’s own cells rather than foreign invaders – and so it makes sense that genetic variants in immune system genes would influence the course of the disease and its clinical features. HLA genes, in particular, encode proteins that contribute to self vs. non-self immune recognition. Previous studies have proposed a link between HLA-DRB1*1501 and disease severity. Since lesions on the spinal cord are often used to diagnose MS and the degree of disability, Sombekke’s team suggests that the association of HLA-DRB1*1501 with spinal cord lesions might help explain its relationship with severity of 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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Amyotrophic Lateral Sclerosis (ALS) is a rare and deadly neurological disorder affecting voluntary muscle movement. It typically claims victims’ lives about three years after symptoms begin. In the United States,  the condition is more commonly known as Lou Gehrig’s disease, after the Yankees slugger who died of ALS in 1941. About 20,000 people in the U.S. have ALS and one in 100,000 people develop the disease per year.

Despite years of research, relatively little is known about the causes and risk factors of ALS. This week, understanding of the disease moved a step forward with a study published in PNAS that identified several new genetic variants associated with ALS risk.

A team of scientists led by Francois Gros-Louis and Jean-Pierre Julien of Université Laval in Canada analyzed genetic variants in the CHGB gene in more than 700 French and Swedish people with ALS and 750 people without the disease. Although most of the variants found in the CHGB gene were rare, one of the more common variants was markedly more frequent in those with ALS than in those without. The rarer T version of this SNP, rs742710, was associated with about 2.4 times increased odds of ALS, compared to the more prevalent C version. The SNP also seemed to affect age-of-onset: individuals with the T version of rs742710 tended to develop ALS about 10 years earlier than individuals with two copies of the C version.

(23andMe Complete Edition customers can check their data for rs742710 using the Browse Raw Data feature.)

One of the hallmarks of ALS and some other neurodegenerative diseases is the abnormal aggregation of proteins within cells. Many of these aggregations appear in organelles known as the endoplasmic reticulum (ER) and the Golgi network, which are tasked with processing proteins into their mature forms and readying certain ones to be secreted, or released outside the cell.

Gros-Louis and his team focused on the CHGB gene because of its “guilt-by-association” relationship with SOD1, one of the few established genetic factors linked to ALS. Abnormal SOD1 proteins tend to aggregate in motor neurons of people with ALS, and recent reports have found chromogranin B, the protein encoded by CHGB, near these aggregates.

Chromogranin B is typically secreted from cells like a hormone, and so the researchers hypothesized that genetic variants in CHGB associated with increased risk for ALS might impair secretion of chromogranin B. Sure enough, in cells with CHGB containing the T version of rs742710, almost all of the protein remained sequestered inside the ER/Golgi network.  In cells with normal CHGB, only 40% of the chromogranin B protein was found there.

Previous studies in this area have indicated that stress and damage to the ER and Golgi are a defining characteristic of ALS-affected motor neurons. Gros-Louis and his colleagues suggest that further research be done to investigate whether CHGB variants like rs742710 stress the ER-Golgi system and hasten the deterioration of motor neurons.

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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We all know people struggling with weight issues. Maybe they’re overweight and can’t seem to lose the pounds no matter what new diet or exercise regime they try. Or, maybe they’re underweight and have a hard time bulking up no matter how many donuts they consume or weights they lift. Clearly, there’s more to your weight than what you eat.

Researchers have been hot on the trail of genetic factors influencing obesity ever since the discovery of the gene coding for leptin, a protein responsible for telling the brain “I’m full.” But just having a genetic variant linked to obesity doesn’t mean stretchy waist pants are a certainty – many factors interact with diet to affect your health.

Several years ago, a team led by Dolores Corella and Jose Ordovas discovered that the rs5082 variant in the APOA2 gene is associated with obesity as well as general food measures like total calorie and protein intake. In a new study published last month in the Archives of Internal Medicine, Corella and Ordovas replicated the association with obesity in three independent populations and determined that the association depends specifically on the amount of saturated fat in the diet. More than 3400 individuals across three population groups – 2532 people of European ancestry and 930 Hispanics from Puerto Rico – participated in the study, providing data on dietary intake, physical activity, body mass index (BMI) and other variables.

In the two European populations, individuals with two copies of the C version of rs5082 had significantly higher calorie intake than individuals with at least one copy of the T version – a finding that echoed their previous work. When Corella and her colleagues looked at BMI, however, they found that rs5082 was significantly associated with higher BMI, but only in individuals who consumed high amounts of saturated fat, irrespective of total calorie intake.

In all three populations, there was no association between rs5082 genotype and BMI in individuals who consumed diets low in saturated fat. Furthermore, there was no significant difference in BMI for individuals who had low intake and individuals who had high intake if they had at least one copy of the T version. But people with the CC genotype who consumed diets high in saturated fat had significantly higher BMI than people with either the TC or TT genotype who also consumed high saturated fat diets. After combining data from the three groups, Corella’s team determined that individuals with the CC genotype who had high saturated fat intake also had about 1.8 times higher odds of obesity than individuals with the T version who consumed similar amounts of saturated fat, total calorie intake being equal.

(23andMe Complete Edition customers can look up their data for rs5082 using the Browse Raw Data feature, where G corresponds to the C version and A corresponds to the T version reported here.)

Although earlier research in animals has implicated APOA2 in obesity, its role in human health has been controversial. In this study, Corella and her team show that saturated fat intake can interact with a genetic variant in APOA2 to increase obesity risk. In fact, the variant makes more of a difference the more saturated fat one consumes. While minimizing saturated fat intake continues to be common sense, in a society characterized by rich diets and increasingly sedentary lifestyles, discoveries like this drive home the fact that genetics and environment together form an intricately interwoven picture of our health.

(Many thanks to TRK for bringing this study to our attention!)

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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Type 2 diabetes is a common disease characterized by high blood glucose levels and unresponsiveness to insulin. Individuals with type 2 diabetes may produce insulin at normal levels but do not respond to it sufficiently, either because the insulin receptors in their cells have become less sensitive or because the insulin produced in the pancreas isn’t being delivered to other cells. One reason that insulin might not make it where it’s supposed to go is that insulin secretion from pancreatic β cells is impaired.

In an article published in Science last week, Anders Rosengren, Erik Renstrom and their team from the Lund University Diabetes Centre in Sweden used newly created rat strains – called N1I5 and N1I11, both derived from a well-studied type 2 diabetes strain – to identify the Adra2a gene as one of the genetic culprits behind defective insulin secretion. They then tied a variation in this gene to type 2 diabetes in humans.

When Rosengren and his colleagues stimulated β cells from each strain with glucose, they found that N1I5 cells secreted less insulin than both N1I11 and normal cells. Other experiments verified that whatever was causing impaired insulin secretion was unique to N1I5.

Of the handful of possible gene candidates, only Adra2a showed different expression between the two strains, causing N1I5 cells to produce almost twice as much of the encoded α(2A)AR  protein as N1I11 cells. Additional experiments confirmed that α(2A)AR was indeed responsible for impaired insulin secretion. α(2A)AR is known to be involved in suppressing insulin secretion but variations in the gene had not previously been associated with the development of type 2 diabetes.

Based on the strong evidence from their rat experiments, Rosengren’s group hypothesized that variations in the human version of Adra2a, helpfully called ADRA2A, would contribute to type 2 diabetes risk in humans. Using two independent populations totaling about 5500 people, they first found that the less common A version of rs553668 was associated with impaired insulin secretion.

To see whether the results extended to actual diabetes risk, Rosengren and his team then compared a group of 2830 type 2 diabetics to 3740 non-diabetics. They found that rs553668 was also significantly associated with type 2 diabetes, with each copy of the A version increasing the odds of having the disease by about 1.4 times. The final piece of evidence came from laboratory experiments. Pancreatic cells from people carrying the riskier A version of rs553668 behaved just like the cells from the insulin-secretion impaired N1I5 rats.

(23andMe Complete Edition customers can check their data for rs553668 using the Browse Raw Data feature.)

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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Inflammatory bowel disease (IBD) is a chronic autoimmune disorder – encompassing both Crohn’s disease and ulcerative colitis – that affects more than a million people in the United States. Normally, our immune system works to fight off harmful pathogens that might pass through our digestive tract. In IBD, however, the immune system stays in overdrive and attacks normal intestinal cells. The resulting chronic inflammation causes abdominal cramps, diarrhea, pain and fever, and weight loss.

Most studies of IBD have investigated genetic factors for Crohn’s disease, but a set of articles published this week in Nature Genetics on IBD address two less-explored angles. Two of the studies identify new genetic associations with ulcerative colitis in European and Asian populations. The third study focuses on early-onset IBD (diagnosed prior to age 19), which is typically more severe than adult-onset IBD and is believed to have a stronger genetic component.

In a joint effort, the UK IBD Genetics Consortium and the Wellcome Trust Case Control Consortium 2 identified three genetic variants associated with ulcerative colitis in a group of 4,682 people with the condition and over 10,000 healthy individuals, all of European ancestry. These variants are located in regions of the genome that had not previously been associated with ulcerative colitis .

Each of the three SNPs – rs886774, rs1728785, and rs6017342 – was associated with slightly increased odds of ulcerative colitis. The researchers highlight a number of proteins encoded by genes near these variants that help maintain the lining of the intestine and regulate cell-cell interactions, including HNF4a, E-cadherin, and laminin, though their exact roles in ulcerative colitis are unclear.

(23andMe Complete Edition customers can see their data for SNPs in this post by using the Browse Raw Data feature.** See table at the end of this post.)

The second study, led by Kouichi Asano and Michiaki Kubo of the RIKEN Center for Genomic Medicine in Japan, looked for genetic variants associated with ulcerative colitis in a group of about 1,380 Japanese individuals with the disease and 3,050 individuals without it. Their two strongest associations were SNPs located near genes involved in immune response.

One of these SNPs, rs9263739, is in a region of the genome that encodes antigen-presenting proteins – important for immune system recognition of “self” vs. foreign substances. Antigen-presenting proteins display bits and pieces of proteins or sugars (antigens) from cells and other microorganisms to immune cells that normally ignore “self” antigens but destroy foreign ones. In autoimmune diseases like IBD, the immune system loses the ability to distinguish between the two types of antigens and mistakenly reacts to the body’s own cells.

The other strongly associated SNP, rs1801274, is located in the FCGR2A gene and causes a change to the encoded protein, which is expressed on the surface of several types of immune cells. Previous studies by other groups have shown that this SNP can play a significant role in the development of other autoimmune disorders. The version of the SNP that increased risk for those other disorders, however, is the opposite version compared to the version associated with increased risk for ulcerative colitis in the current Japanese study.

In the third study, a team led by Marcin Imielinski and Hakon Hakonarson of the Children’s Hospital in Philadelphia identified genetic variants associated with early-onset IBD. Almost 3,500 individuals of European ancestry who had been diagnosed with IBD – either Crohn’s disease or ulcerative colitis – before their nineteenth birthday were compared to close to 12,000 individuals free of IBD.

Imielinski’s team identified three SNPs significantly associated with early-onset Crohn’s disease. For two of the SNPs, rs8049439 and rs2412937, the less common version was associated with slightly increased odds of early-onset Crohn’s disease, while the less common version of rs1250550 was associated with slightly decreased odds. They also observed an association between rs4676410 and early-onset ulcerative colitis.

When they conducted a combined analysis of all early-onset IBD cases (Crohn’s and ulcerative colitis), the researchers found that the three genetic variants associated with early-onset Crohn’s disease were associated with early-onset IBD in general.  The effect sizes were similar to those seen when they looked at just Crohn’s disease.  In addition, they identified another SNP associated with early-onset IBD, rs10500264.

Of the four genetic variants associated generally with early-onset IBD, Imielinski and his colleagues consider rs8049439 to be especially important given its proximity to IL27, a gene involved in the immune system. The researchers showed in a small sample that individuals with early-onset Crohn’s disease express the gene at much lower levels than healthy people. IL27 encodes a protein that suppresses inflammatory immune cells in the intestine, so it is possible that lower expression of IL27 contributes to a hyperactive inflammatory response.

Although the biology of IBD is complex, these three studies contribute to a more comprehensive picture of the genetic factors underlying the condition and suggest potential directions for the development of therapeutics.

“This is an evolving story of discovering what genes tell us about the disease,” said Dr. Baldassano from the Children’s Hospital team in a press release. “Pinpointing how specific genes act on biological pathways provides a basis for ultimately personalizing medicine to an individual’s genetic profile.”

* 23andMe does not currently report on rs1728785, so we instead provide information on a perfect proxy for it, rs1170426.

** 23andMe does not currently report on rs886774 or any of its proxy SNPs.

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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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 most common type of arthritis, osteoarthritis, occurs due to accumulated wear and tear – welcome to old age! – or from repetitive movements or injury.  Rheumatoid arthritis, on the other hand, is caused by an autoimmune attack on the lining of the joints, resulting in stiffness, muscle aches, and general fatigue. Approximately two million people in the U.S. suffer from rheumatoid arthritis, and although women are affected more often than men, men tend to have more severe symptoms.

Research has identified a number of genetic factors that contribute to one’s risk of developing rheumatoid arthritis, and new studies continue to reveal more genes that seem to be involved in this complex disease. In a report published this week in Nature Genetics, a team led by Soumya Raychaudhuri and Robert Plenge of Brigham and Women’s Hospital in Boston describe three new genetic associations with rheumatoid arthritis risk.

Using a computational algorithm that incorporates information from the scientific literature, Raychaudhuri and his colleagues identified 22 candidate SNPs that have a large number of connections to previously validated genetic risk factors for rheumatoid arthritis. When they tested these SNPs in a set of almost 8,000 Caucasians with rheumatoid arthritis and 12,000 controls, seven emerged as highly significant associations. After combining this study population with that from a previous study – for a total of more than 11,000 individuals with rheumatoid arthritis and 22,000 without  – three of the variants rose to the top.

All three variants are in genes not previously linked to rheumatoid arthritis. Each copy of a C at rs1980422 and each copy of a G  at rs11586238 increased an individual’s odds of developing the condition by 1.13 times. Similarly, each copy of a C at rs548234 increased the odds of rheumatoid arthritis by 1.11 times.

(23andMe customers can see their data for the SNPs currently covered by 23andMe’s service by using the Browse Raw Data feature. 23andMe currently does not report on rs11586238, but does report on a SNP that acts as a perfect proxy for it, rs12405671. The A version of rs12405671 corresponds to the G version of rs11586238.)

These three SNPs are located near genes involved in the immune response, and, in some cases, near genetic variations that have been associated with other autoimmune disorders, such as Crohn’s disease and type 1 diabetes. Although a detailed, cohesive picture of the causes underlying rheumatoid arthritis remains elusive, each new association discovered by researchers contributes to our understanding of the biological players involved in this autoimmune 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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In autoimmune disorders, the immune system — which normally protects us from harmful, foreign substances — goes into overdrive and starts attacking the body’s own cells, causing inflammation and organ damage.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by chronic, widespread inflammation that can result in arthritis, fever, skin rashes, muscle aches, seizures and fatigue, among other symptoms. Some symptoms can even be life-threatening. Between one and seven out of every 10,000 people is affected by SLE. The disease affects women nine times more frequently than men, and tends to be more prevalent and severe in people of non-European descent. The exact causes of SLE are unknown and there is currently no cure.

For several decades now, researchers have probed the genetic underpinnings of this mysterious disease. Two studies published this week in Nature Genetics identify new genetic variants associated with SLE in European and Asian populations.

In the first study, a team led by Vesela Gateva and Robert Graham of Genentech identified ten novel genetic variants associated with SLE in a European group consisting of more than 3,000 people with the disease and 10,000 people without SLE. Half of these variants were previously associated with other autoimmune diseases, but this is the first time they have been associated with SLE. In addition, the researchers confirmed nine variants previously linked to SLE in other studies.

(23andMe customers can see their data for the SNPs currently covered by 23andMe’s service by using the Browse Raw Data feature. See table at the end of this post.)

Of the previously reported autoimmune variants, Gateva and colleagues note that the A version of rs641153, a known risk variant for age-related macular degeneration, seems to be protective against SLE, although additional research will be needed to confirm this effect.

One of the SNPs not previously associated with SLE or any other autoimmune disease, rs7708392, is in the gene that encodes TNIP1.  The TNIP1 protein is known to interact with TNFAIP3, a protein that genetic studies have previously linked to rheumatoid arthritis, psoriasis and type 1 diabetes — all autoimmune disorders — suggesting that the TNIP1-TNFAIP3 association may play a general role in autoimmunity.

(23andMe does not currently report data for rs7708392.)

In the second study, Jian-Wen Han and Xue-Jun Zhang’s team from Anhui Medical University in China identified 21 genetic variants associated with SLE in more than 4,000 Chinese individuals with the disease and 8,200 individuals without autoimmune disorders. About half of the associations confirmed previous reports in European populations, and half represented novel findings.

Interestingly, one of the new variants they identified — rs10036748 — is also in the TNIP1 gene. Here, each copy of a T increased odds of SLE by about 1.24 times. Many other SNPs associated with SLE in the Chinese study were located in or near genes involved in immune response.

The TNIP1-TNFAIP3 connection and association of variants known to be linked to other autoimmune diseases add to growing evidence that common genetic factors contribute to autoimmunity. These findings may help pave the way for novel therapeutics for autoimmune disease that exploit this shared genetic basis.

Novel SNPs associated with SLE in Europeans (Gateva et al. study)

Novel SNPs associated with SLE in Asians (Han et al. study)

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