Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry

Arthritis & Rheumatology
F Yesim DemirciM Ilyas Kamboh

Abstract

Genome-wide association studies (GWAS) in individuals of European ancestry identified a number of systemic lupus erythematosus (SLE) susceptibility loci using earlier versions of high-density genotyping platforms. Followup studies on suggestive GWAS regions using larger samples and more markers identified additional SLE loci in subjects of European descent. This multistage study was undertaken to identify novel SLE loci. In stage 1, we conducted a new GWAS of SLE in a North American case-control sample of subjects of European ancestry (n = 1,166) genotyped on Affymetrix Genome-Wide Human SNP Array 6.0. In stage 2, we further investigated top new suggestive GWAS hits by in silico evaluation and meta-analysis using an additional data set of subjects of European descent (>2,500 individuals), followed by replication of top meta-analysis findings in another data set of subjects of European descent (>10,000 individuals) in stage 3. As expected, our GWAS revealed the most significant associations at the major histocompatibility complex locus (6p21), which easily surpassed the genome-wide significance threshold (P < 5 × 10(-8)). Several other SLE signals/loci previously implicated in Caucasians and/or Asians were also confirmed in the ...Continue Reading

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Oct 26, 2016·Journal of Autoimmunity·Maria Teruel, Marta E Alarcón-Riquelme
May 17, 2017·Current Opinion in Rheumatology·Lingyan ChenTimothy J Vyse
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Jun 24, 2020·Nature Immunology·Shinya TanakaTomohiro Kurosaki
Nov 4, 2021·Seminars in Immunopathology·Eunji HaKwangwoo Kim

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