Genetics and RLS/WED

[TimG]

There have been a number of research studies linking RLS/WED with specific genes. I am a member of '23 and me' genetic testing service and was able to compare my own genetic data with the gene regions (SNPs) associated with an increased probability of inherited restless legs syndrome. A number of my SNP alleles were indeed associated with RLS/WED. I did this because I wanted to try to determine if I have primary or secondary (iron stores related) RLS.

For anyone interested, the genes of interest are MEIS1, BTBD9, MAP2K5, NOS1, PTPRD, and TOX3. An important note: '23 and Me' genetic testing provides raw genetic data when you send in a saliva sample kit (cost $99), but does not include health conditions associated with a particular genetic profile. You have to do the research on your own, which is time-consuming (it took me about an hour), but may be useful.

[ViewsAskew]

Huh. Very interesting. Thanks for posting. And, now you know it's primary.

I know mine is primary because so many family members have it. But, it would be interesting to see which genes I carried.

[Rustsmith]

TimG, what is the format of the information that they send back to you? I knew that they were still allowed to provide ancestral type information that could be useful for genealogy or origination of the family type info, but I did not realize that they provided you with sufficient data for you to be able to go in and identify which RLS (or other genetic condition) gene that you have.

Like Ann, I already know that I have primary RLS, but there are a couple of other genetic conditions that I would like to check out without having to pay several $k for a complete medical quality gene sequencing. And if I could check it out without the info getting into my official medical record (for the insurance company's benefit), then all the better.

[TimG]

Steve,

When you log in to your 23 and Me account, you can access a section called Raw Genetic Data. There they list each chromosome and the genotypes on each. The list is very long and not useful. You can also enter a gene or SNP (Single Nucleotide Polymorphism) search by entering the number your looking for that's associated with the disease or condition that you're interested in.

I found the specific SNP combos on the six genes that are associated with RLS/WED and looked up the specific SNPs associated with inheritable restless leg syndrome. For example, I looked up the SNP rs884202 associated with MAP2K5 gene. My genotype, AG, was associated with an increased incidence of RLS. There are 18 SNPs that are associated with RLS. I had 9 of 18 genotypes associated with RLS.

So if you know the genotypes associated with the disease condition you're interested in, it's not too hard to enter the SNPs into the Raw Genetic Data search box.

[Rustsmith]

Tim, I sent my saliva sample in last week, so I should be getting my results in a couple of weeks.

You mentioned that it took about an hour to do the research to determine whether you had any of the six genes. Was there any specific resource(s) that you used that was particularly helpful in making the determination? In my case, once I get my results and can investigate the six RLS genes (I am fairly certain that I have one), there are a couple of other genetic conditions that I want to look into.

Edit for future readers: I found a great resource for genetic information. What I was asking Tim for can be found at SNPeadia for RLS and a large number of other genetically driven diseases.

[Rustsmith]

Further update, I got my results. I found that 23andme only tests enough sequences to identify three of the five or six RLS/WED genes that have been identified, so far. I have all three tested by 23andme. Each gene increases the chance of getting RLS/WED, it is not proof that you will get it like some other genetically driven diseases. However, it is my understanding that the probabilities are cumulative, so my three dramatically increased my odds.

Finally, for anyone who is interested but doesn't want to do the research that Tim described, you can submit your results from 23andme, FamilyTree DNA or Ancestry DNA to a product available at SNPedia.com called Promethease. For $5, Promethease takes your results and converts them into an easily understandable report not only for RLS/WED, but also every other medical issue or genetic trait that has been identified so far. Makes for an interesting, and often humorous read for being so obvious or so absurd.

[Polar Bear]

Very interesting Steve.