Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population.

摘要

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 and Asian populations. A recent genome-wide study in a north American population showed new associations with rheumatoid arthritis (RA), among which was a single nucleotide polymorphism (SNP) rs2736340 in the inter-genic region of BLK and FAM167A. In the HapMap Japanese samples (http://www.hapmap.org/index.html.ja), this SNP is in absolute linkage disequilibrium [r~2=1) with rsl3277113, previously associated with SLE. We have shown that the population frequency of the risk genotype rsl3277113A/A and the OR for SLE were substantially higher in the Japanese population than in the Caucasian population.