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NR1H3 p.Arg415Gln is not associated to multiple sclerosis risk

The International Multiple Sclerosis Genetics Consortium, View ORCID ProfileChris Cotsapas
doi: https://doi.org/10.1101/061366
Chris Cotsapas
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Abstract

A recent study by Wang et al claims the low-frequency variant NR1H3 p.Arg415Gln is pathological for multiple sclerosis 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, but we find no evidence that this variant is associated either with MS or disease subtype. Wang et al 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 mutations describing a Mendelian form of MS - of which no examples exist - can therefore not be substantiated by data.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
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Posted June 29, 2016.
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NR1H3 p.Arg415Gln is not associated to multiple sclerosis risk
The International Multiple Sclerosis Genetics Consortium, Chris Cotsapas
bioRxiv 061366; doi: https://doi.org/10.1101/061366
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NR1H3 p.Arg415Gln is not associated to multiple sclerosis risk
The International Multiple Sclerosis Genetics Consortium, Chris Cotsapas
bioRxiv 061366; doi: https://doi.org/10.1101/061366

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