Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort.
Matteo BianchiSergey V KozyrevAntonella NotarnicolaLina Hultin RosenbergÅsa KarlssonPascal PucholtSimon RothwellAndrei AlexssonJohanna K SandlingHelena AnderssonRobert G CooperLeonid PadyukovAnna TjärnlundMaryam Dastmalchinull nullJennifer R S MeadowsLouise Pyndt DiederichsenØyvind MolbergGabriela Arredondo Hector ChinoyJanine A LambLars RönnblomKerstin Lindblad-TohIngrid E LundbergPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2021)
Our study suggests the contribution of rare genetic variation to disease susceptibility in IIM and specific patient subgroups, and pinpoints genetic associations consistent with previous findings by gene expression profiling. These features highlight genetic profiles potentially relevant to disease pathogenesis.