%0 Journal Article
%T Association between a C8orf13每BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility
%A Tomoko Sugiura
%A Yasushi Kawaguchi
%A Kanako Goto
%A Yukiko Hayashi
%A Takahisa Gono
%A Takefumi Furuya
%A Ichizo Nishino
%A Hisashi Yamanaka
%J PLOS ONE
%D 2014
%I Public Library of Science (PLoS)
%R 10.1371/journal.pone.0090019
%X 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每BLK, one of the strongest candidate genes for autoimmune diseases, in susceptibility to polymyositis/dermatomyositis in the Japanese population. A possible gene每gene interaction between C8orf13每BLK and STAT4, which we recently showed to be associated with Japanese polymyositis/dermatomyositis, was also analyzed. Methods A single-nucleotide polymorphism in C8orf13每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每BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P<0.001, odds ratio [OR] 1.44, 95% confidence interval [CI] 1.19每1.73), as well as polymyositis (P = 0.011, OR 1.32, 95% CI 1.06每1.64) and dermatomyositis (P<0.001, OR 1.64, 95% CI 1.26每2.12). No association was observed between the C8orf13每BLK rs13277113A allele and either interstitial lung disease or anti-Jo-1 antibody positivity. The C8orf13每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每6.02) for the carriers of four risk alleles at the two SNP sites, namely, rs1327713 and rs7574865. Conclusions This study established C8orf13每BLK as a new genetic susceptibility factor for polymyositis/dermatomyositis. Both C8orf13每BLK and STAT4 exert additive effects on disease susceptibility. These observations suggested that C8orf13每BLK, in combination with STAT4, plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals.
%U http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0090019