Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

• Main Authors: Sigurgeir Olafsson, Pernilla Stridh, Steffan Daniël Bos, Andres Ingason, Jack Euesden, Patrick Sulem, Gudmar Thorleifsson, Omar Gustafsson, Ari Johannesson, Arni J. Geirsson, Arni V. Thorsson, Bardur Sigurgeirsson, Bjorn Runar Ludviksson, Elias Olafsson, Helga Kristjansdottir, Jon G. Jonasson, Jon Hjaltalin Olafsson, Kjartan B. Orvar, Rafn Benediktsson, Ragnar Bjarnason, Sjofn Kristjansdottir, Thorarinn Gislason, Trausti Valdimarsson, Evgenia Mikaelsdottir, Snaevar Sigurdsson, Stefan Jonsson, Thorunn Rafnar, Dag Aarsland, Srdjan Djurovic, Tormod Fladby, Gun Peggy Knudsen, Elisabeth G. Celius, Kjell-Morten Myhr, Gerdur Grondal, Kristjan Steinsson, Helgi Valdimarsson, Sigurdur Bjornsson, Unnur S. Bjornsdottir, Einar S Bjornsson, Bjorn Nilsson, Ole A. Andreassen, Lars Alfredsson, Jan Hillert, Ingrid Skelton Kockum, Gisli Masson, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Hreinn Stefansson, Haukur Hjaltason, Hanne F. Harbo, Tomas Olsson, Ingileif Jonsdottir, Kari Stefansson
• Format: Article
• Language: English
• Published: Nature Publishing Group 2017-08-01
• Series: npj Genomic Medicine
• Online Access: https://doi.org/10.1038/s41525-017-0027-2

Multiple sclerosis: Sequence variants discovered by meta-analysis informed by genetic correlation Combining studies and comparing across diseases turned up 14 novel gene variants linked to multiple sclerosis (MS). A team led by Kári Stefánsson and Ingileif Jónsdóttir from deCODE genetics in Reykjavík, Iceland, amalgamated data from a large international study of MS with three smaller ones from Sweden, Norway and Iceland. They conducted a meta-analysis on the combined data set — which encompassed around 21,000 MS patients and 372,000 population controls — and uncovered seven new genetic risk variants linked to MS. The researchers then compared the genetic overlap between various autoimmune diseases in the Icelandic cohort, and documented a close relationship between MS and primary biliary cirrhosis (PBC). They looked more closely at variants linked to PBC, and found that seven also increased the risk for MS, bringing the tally of novel gene variants up to fourteen.