Positive Association between ANKRD55 Polymorphism 7731626 and DermatomyositisPolymyositis with Interstitial Lung Disease in Chinese Han Population

Abstract EN

Single nucleotide polymorphisms (SNPs) in TNFSF4 and ANKRD55 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 TNFSF4 (rs2205960, rs844644, and rs844648) and ANKRD55 (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 (Pc=0.030, OR = 0.65, 95% CI: 0.47–0.88) and DM/PM-ILD (Pc = 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 ANKRD55 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.