Multiple Sclerosis Diagnosis And Treatment: Scientist Challenge Study Linking Gene To The Condition

Last June ,a study came out in Neuron that a gene is responsible for multiple sclerosis. That gene has been identified as NR1H3 by Dr. Carles Vilarino-Guell and his team from the University of British Columbia. However, more and more researchers are emerging to question the study's claims.

According to STAT, a number of researchers tried to replicate the study but failed to do so. Daniel Weeks is one of those who have questioned the study's claim. He said that there seems to be a statistical error made and once that error has been corrected, the strength of the study's claim also changes.

Another researcher who has doubts about the study is Chris Cotsapas of Yale University and Broad Institute. What he did was to look for the said gene in different MS patients and healthy controls.

He did this by going through the database of the International MS Genetics Consortium. In his study, he only found 31 people with MS who have the gene and 31 people who have the gene but don't have MS.

Even through all this and other studies that show that there seems to be no relation between NR1H3 and multiple sclerosis, Vilarino-Gruell stands by his study. He said that studying the DNA from MS patients and families can reveal that link.

"I do believe (the association between the mutation and MS) is correct, although it would be nice to have an independent replication," he said. He also added that they have an unpublished study that supports the published one.

Before the counter-studies have come out that dispute the claim a number of researchers saw the study made by Vilarino-Gruell as a breakthrough in multiple sclerosis research.

"This is by far the strongest connection ever found between any single genetic mutation and MS," Dr. Barry Starr, genetics specialist for KQED Science at the time of the discovery, said.

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