Polymorphisms in the genomic region encoding B lymphoid tyrosine kinase (BLK) and family with sequence similarity 167, member A (FAM167A, also referred to as C8orf13) at 8p23.1 have been associated with systemic lupus erythematosus (SLE) in Caucasian[1,2] and Asian[3,4] populations. A recent genome-wide study in a north-American population demonstrated new associations with rheumatoid arthritis (RA), among which was a single nucleotide polymorphism (SNP) rs2736340 in the intergenic region of BLK and FAM167A. In the HapMap Japanese samples (http://www.hapmap.org/index.html.ja), this SNP is in absolute linkage disequilibrium (r2=1) with rs13277113, previously associated with SLE.[1-4] We demonstrated that both the population frequency of the risk genotype, rs13277113A/A, and the odds ratio (OR) for SLE were substantially higher in the Japanese compared with the Caucasian populations.
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