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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New research suggests that your skills behind the wheel may be affected by your genes.

To better understand the effects of a variant in the BDNF gene on motor skills learning, Steven Cramer and colleagues at UC Irvine tested 29 subjects in a driving simulator. Their results, published in the journal Cerebral Cortex, might make you think twice about whom you go on your next road trip with.

Subjects sat in front of a screen with their hands firmly planted at “10 and 2″ on a steering wheel and guided their “car” around a track, attempting to stay centered over a black line. The steering was tuned so that subjects had to begin turning before the screen actually changed.

Over the course of 15 trials, all of the study subjects got better at the driving task. But the seven people who had a T rs6265 improved less than those with two Cs. When subjects returned to the lab four days later for a final lap, everyone had forgotten how to drive the simulator a little bit, but those with a T did worse.

“These people [with a T at rs6265] make more errors from the get-go, and they forget more of what they learned after time away,” Cramer said in a press release.

(23andMe customers can check their data for rs6265 using the Browse Raw Data feature.)

The BDNF protein helps to regulate how nerve cells make new connections and maintain old ones. The T version of rs6265, also known as the Val66Met variant, reduces the amount of BDNF available in the brain and has been linked to impaired learning and memory. Studies have shown that stroke victims with this variant don’t recover as well as those who lack it.

But there may be an upside: the variant seems to have a beneficial effect on cognition in people with Parkinson’s disease, Huntington’s disease, lupus and multiple sclerosis.

“It’s as if nature is trying to determine the best approach,” Cramer said. “If you want to learn a new skill or have had a stroke and need to regenerate brain cells, there’s evidence that having the variant is not good. But if you’ve got a disease that affects cognitive function, there’s evidence it can act in your favor. The variant brings a different balance between flexibility and stability.”

See Wired Science for more.

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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There’s a high likelihood that a disease of some sort affects you or one of your relatives — every family seems to have ripples in its gene pool that define and shape its health dynamics.

Your family might have a propensity for rheumatoid arthritis or a particular type of cancer. Whatever it is, there can be an instant family bond created by that disease — along with a sense of fate.

That feeling moves some families to action. The Heywood brothers started PatientsLikeMe when one of them, Stephen, was diagnosed with Lou Gehrig’s disease in 1998. Nancy Brinker created a huge force in breast cancer research through the Susan G. Komen Foundation, named for her sister who died of that disease. Michael J. Fox, a father of four, started his remarkable foundation after he was diagnosed with Parkinson’s disease at the age of 30.

But not everyone can garner the resources to create their own company or foundation; it’s hard to know where to turn in trying to make a difference. This summer, 23andMe is launching the Research Revolution to empower more people to jumpstart genetic research into the diseases that affect them and the people they love.

This new research model makes it possible for large groups of people to assemble themselves into large-scale genetic studies without having to raise millions of dollars in funding, and then wait years for things to get rolling. Participants also get access to their own genetic information through the 23andMe Personal Genome Service Research Edition, which offers a snapshot of what their data says about more than 100 diseases and traits. We believe that if you volunteer for research, you should be able to see what you’ve contributed to the effort.

The Research Revolution is going to start with the 10 diseases listed at the bottom of this post. There are several ways you can participate:

* Visit the Research Revolution page and vote for the disease you would most like 23andMe to study.
* If you’re already a 23andMe customer, log into your account and complete any of the 23andWe surveys you haven’t taken yet.
* Spread the word — especially to people who are patients or survivors of the 10 diseases we’re featuring.

There’s strength in numbers. The more people who enroll in the Research Revolution, the more likely it is to make new discoveries about the causes and about the treatments of disease.

Long live the revolution!

The 10 Research Revolution diseases are:

ALS
Celiac Disease
Epilepsy
Lymphoma and Leukemia
Migraines
Multiple Sclerosis
Psoriasis
Rheumatoid Arthritis
Severe Food Allergies
Testicular Cancer

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Multiple sclerosis (MS) is a common inflammatory disease that leads to the destruction of the insulating coating that surrounds nerves in the brain and spinal cord. Without this insulation, the electrical impulses the nerves are supposed to carry between the brain and rest of the body get confused or lost along the way, leading to a loss of control of a variety of bodily functions.

Genetic factors, especially variants in immune system genes, are known to play a part in MS.  But environment is important too.  Most striking is the influence of geography.  Increasing distance from the equator is associated with higher prevalence of MS.  Sunlight, and specifically its role in generating active vitamin D in the body, has been proposed to be the reason for this effect. The exact role of vitamin D in the disease, however, has not been shown.

New research, published online today in the journal PLoS Genetics, shows a direct connection between vitamin D and the strongest genetic risk factor for MS found so far. These findings suggest that simply taking a supplement during pregnancy and childhood could prevent this disabling disease from developing.

In laboratory experiments, Sreeram Ramagopalan and colleagues from the University of Oxford and the University of British Columbia showed that a variant of the HLA-DRB1 gene called HLA-DRB1*1501 is turned on by vitamin D.  Other versions of the HLA-DRB1 gene were not responsive to the vitamin.  The researchers did not address what might be responsible for turning these versions on.

In people with European ancestry, each copy of the HLA-DRB1*1501 variant increases the odds of developing MS by about two times compared to someone with no copies. About 40% of this population has at least one copy.

(23andMe customers can check their data for HLA-DRB1*1501 in the Multiple Sclerosis research report.)

The researchers think that in people with the HLA-DRB1*1501 variant, vitamin D deficiency prevents the gene from being turned on during development in utero and in the early years of childhood, when it and other genes like it are involved in training the immune system to distinguish between the body’s own tissues and foreign invaders such as bacteria and viruses.  Immune cells that have failed this basic training but nonetheless been released into the circulation are thought to be behind the nerve cell destruction seen in MS.

According to the authors, the idea that it’s not just vitamin D, but when you get it, is supported by data on MS among people who have migrated from sunny low-risk regions such as the Caribbean to regions with low sunlight such as the U.K., where the risk for the disease is much higher.

“Immigrants who migrate before adolescence acquire the risk of their new country, while those who migrate after retain the risk of their home country,” the authors write.

“This study provides more direct support for the already strong epidemiological evidence implicating sunlight and vitamin D in the determination of MS risk.  Given that a high frequency of vitamin D insufficiency in the general population has been observed, our data support the case for supplementation during critical time periods to reduce the prevalence of this devastating disease,” the authors conclude.

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