Second Gene That Increases MS Risk Found

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Between 1972 and 1975, researchers found that a variant of the human leukocyte antigen (HLA-DRB1) increased the odds of getting MS up to fourfold. This was the only previously discovered MS gene, and it was located in an area of chromosome 6 involved in regulation of the immune system.

"It's like a puzzle. We'd had this corner piece sitting up there and it's been like that since the 70s," said Margaret Pericak-Vance, co-senior author of Gregory's paper and director of the Miami Institute for Human Genomics at the University of Miami Miller School of Medicine. "We know that genetics are important in MS. We knew that if we're really going to figure out how to treat this disease or even prevent it, we needed to figure out what's going on with the genetics. We knew that the immune system obviously was involved, but what were some of these other genes?" she said.

The scientists involved in the current discovery analyzed genetic information from 12,360 people (both with and without MS) using "genomic convergence." This involves using several different independent techniques, then overlapping them to focus in on likely candidate genes.

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After years of work, the researchers determined that the interleukin 7 receptor (IL7R) alpha chain gene is associated with MS. The gene is involved with the normal functioning of the immune system.

The researchers involved in the NEJM paper confirmed the findings using "whole genome association," whereby they scanned the entire genome for possible genes.

Because that study took a genome-wide approach, they were able to identify additional genes which, while not achieving statistical significance in this phase of research, do merit further attention. "They identified a couple of other candidate genes," Gregory said. "The next big step is to figure out how all these genes work together."

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