Research on Genetic Link to Severe Form of Multiple Sclerosis Under Attack

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STAT today is reporting on a "withering assault" by scientists debunking a headline-making study that claimed a genetic mutation greatly increases the risk of contracting a severe form of multiple sclerosis.

The study, published in the June issue of Neuron, claimed to identify a single malfunctioning gene called NR1H3 as the cause of primary progressive multiple sclerosis in some patients.

"This is by far the strongest connection ever found between any single genetic mutation and MS," wrote our genetics specialist, Dr. Barry Starr, in a post about the discovery.

About 60,000 people in the U.S. have PPMS, according to statistics from multiple sclerosis organizations. None of the therapies currently in use for multiple sclerosis have been shown to work for PPMS.

STAT's report says scientists looking at larger genetic databases had not found an association between NR1H3  and multiple sclerosis. One researcher published a failed attempt to replicate the original study in a non-peer-reviewed paper posted on the bioRxiv website.


Carles Vilariño-Güell of the University of British Columbia, the lead researcher of the Neuron paper, defended the study to STAT. 

“I do believe [the association between the mutation and MS] is correct, although it would be nice to have some independent replication,” he said. “In addition to the data in the Neuron article, we have unpublished results that provide additional support” for the original claim."

Read STAT's coverage here: