Positive Association between<i>ANKRD55</i>Polymorphism 7731626 and Dermatomyositis/Polymyositis with Interstitial Lung Disease in Chinese Han Population

Abstract

Single nucleotide polymorphisms (SNPs) in <i>TNFSF4</i> and <i>ANKRD55</i> genes have been shown to be associated with several autoimmune diseases, although whether these genes are susceptibility genes for dermatomyositis/polymyositis (DM/PM) has, to date, not been reported. This study aimed to investigate the potential associations of these SNPs with DM/PM in a Chinese Han population. Five SNPs in <i>TNFSF4</i> (rs2205960, rs844644, and rs844648) and <i>ANKRD55</i> (rs6859219, rs7731626) genes were genotyped using the SequenomMassArray system in 2297 Chinese individuals. In total, 1017 DM/PM patients and 1280 gender-matched healthy controls were genotyped. No significant associations were observed in DM/PM patients for the five SNPs analyzed. The association between SNPs and interstitial lung disease (ILD) was also investigated. Both DM-ILD (<i>P</i>_<i>c</i> = 0.030, OR = 0.65, 95% CI: 0.47-0.88) and DM/PM-ILD (<i>P</i>_<i>c</i> = 0.015, OR = 0.67, 95% CI: 0.51-0.87) exhibited a significant association with the rs7731626-A allele. Rs7731626-A was less frequently found in DM-ILD and DM/PM-ILD patients compared with healthy controls. This is the first study to demonstrate a positive association between <i>ANKRD55</i> polymorphism and DM-ILD and DM/PM-ILD. A decreased frequency of rs7731626-A in DM-ILD and DM/PM-ILD patients suggests that the A variant may be protective against DM/PM-ILD.