rs10807602 - ATXN1-AS1 - STMND1

Magnitude 2.2 · 1 study on file

Reported associations

  • Identification of Shared and Asian-Specific Loci for Systemic Lupus Erythematosus and Evidence for Roles of Type III Interferon Signaling and Lysosomal Function in the Disease: A Multi-Ancestral Genome-Wide Association Study. - Arthritis & rheumatology (Hoboken, N.J.) (2022) · Wang YF, Wei W, Tangtanatakul P, Zheng L, Lei Y, Lin Z, Qian C, Qin X, Hou F, Zhang X, Shao L, Satproedprai N, Mahasirimongkol S, Pisitkun P, Song Q, Lau YL, Zhang Y, Hirankarn N, Yang W · PubMed 34783190

    Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease with differences in prevalence and severity among ancestral groups. This study was undertaken to identify novel genetic components, either shared by or distinct between Asian and European populations. Both trans-ancestral and ancestry-specific meta-analyses of genome-wide association studies (GWAS) for SLE were performed, involving 30,604 participants of European, Chinese, or Thai origin. Using public epigenomic data and expression quantitative trait loci, fine-mapping analyses were conducted to identify putative causal variants and genes for the newly identified loci. Performance of polygenic risk scores for the Thai cohort was evaluated by comparing different training data. A 1-bp deletion upstream of IFNLR1 was foun


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