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Background  Accumulating evidence has shown that several non-HLA genes are involved in the susceptibility to polymyositis/dermatomyositis. This study aimed to investigate the involvement of  C8orf13–BLK , one of the strongest candidate genes for autoimmune diseases, in susceptibility to polymyositis/dermatomyositis in the Japanese population. A possible gene–gene interaction between  C8orf13–BLK  and  STAT4 , which we recently showed to be associated with Japanese polymyositis/dermatomyositis, was also analyzed.    Methods  A single-nucleotide polymorphism in  C8orf13–BLK  (dbSNP ID: rs13277113) was investigated in the Japanese population using a TaqMan assay in 283 polymyositis patients, 194 dermatomyositis patients, and 656 control subjects.    Results  The  C8orf13–BLK  rs13277113A allele was associated with overall polymyositis/dermatomyositis ( P <0.001, odds ratio [OR] 1.44, 95% confidence interval [CI] 1.19–1.73), as well as polymyositis ( P  = 0.011, OR 1.32, 95% CI 1.06–1.64) and dermatomyositis ( P <0.001, OR 1.64, 95% CI 1.26–2.12). No association was observed between the  C8orf13–BLK  rs13277113A allele and either interstitial lung disease or anti-Jo-1 antibody positivity. The  C8orf13–BLK  rs13277113 A and  STAT4  rs7574865 T alleles had an additive effect on polymyositis/dermatomyositis susceptibility. The strongest association was observed in dermatomyositis, with an OR of 3.07 (95% CI; 1.57–6.02) for the carriers of four risk alleles at the two SNP sites, namely, rs1327713 and rs7574865.    Conclusions  This study established  C8orf13–BLK  as a new genetic susceptibility factor for polymyositis/dermatomyositis. Both  C8orf13–BLK  and  STAT4  exert additive effects on disease susceptibility. These observations suggested that  C8orf13–BLK , in combination with  STAT4 , plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals.

plos one

Association between a C8orf13–BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility