NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk.

ABSTRACT: A recent study by Wang et al. (2016a) claims that the low-frequency variant NR1H3 p.Arg415Gln is sufficient to cause multiple sclerosis in certain individuals and determines a patient's likelihood of primary progressive disease. We sought to replicate this finding in the International MS Genetics Consortium (IMSGC) patient collection, which is 13-fold larger than the collection of Wang et al. (2016a), but we find no evidence that this variant is associated with either MS or disease subtype. Wang et al. (2016a) also report a common variant association in the region, which we show captures the association the IMSGC reported in 2013. Therefore, we conclude that the reported low-frequency association is a false positive, likely generated by insufficient sample size. The claim of NR1H3 mutation

SUBMITTER: International Multiple Sclerosis Genetics Consortium. Electronic address: [e-mail] 

PROVIDER: S-EPMC5641967 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature