rs118148285 - UPP1 - ABCA13

Magnitude 2.0 · 1 study on file

Reported associations

• Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis - Arthritis & rheumatology (Hoboken, N.J.) (2022) · Li J, Li YR, Glessner JT, Yang J, March ME, Kao C, Vaccaro CN, Bradfield JP, Li J, Mentch FD, Qu HQ, Qi X, Chang X, Hou C, Abrams DJ, Qiu H, Wei Z, Connolly JJ, Wang F, Snyder J, Flatø B, Thompson SD, Langefeld CD, Lie BA, Munro JE, Wise C, Sleiman PMA, Hakonarson H · PubMed 35347896

  ABSTRACT: Objective Juvenile idiopathic arthritis (JIA) is the most common chronic immune‐mediated joint disease among children and encompasses a heterogeneous group of immune‐mediated joint disorders classified into 7 subtypes according to clinical presentation. However, phenotype overlap and biologic evidence suggest a shared mechanistic basis between subtypes. This study was undertaken to systematically investigate shared genetic underpinnings of JIA subtypes. Methods We performed a heterogeneity‐sensitive genome‐wide association study encompassing a total of 1,245 JIA cases (classified into 7 subtypes) and 9,250 controls, followed by fine‐mapping of candidate causal variants at each genome‐wide significant locus, functional annotation, and pathway and network analysis. We f

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