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Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for

Publication at First Faculty of Medicine |
2015

Abstract

Genome-wide association study (GWAS) of the major myositis phenotypes, including those with anti-Jo-1 antibodies was conducted in 1710 patients. Single-nucleotide polymorphisms showing strong associations (P<5x10MINUS SIGN 8) in GWAS were identified in the major histocompatibility complex region for all myositis phenotypes together.

Imputation and regression analyses found that alleles comprising the human leukocyte antigen (HLA) 8.1 ancestral haplotype (AH8.1) defined essentially all the genetic risk in the phenotypes studied.