Defining genetic risk factors for scleroderma-associated interstitial lung disease

In conclusion,IRF5 rs2004640 and rs10488631, andSTAT4 rs7574865 were significantly associated with SSc as a whole. OnlySTAT4 rs7574865 showed a significant difference in allele frequency in SSc-ILD, with the T allele being protective against ILD.Key points•We confirm the associations of the IRF5 SNPs rs2004640 and rs10488631, and the STAT4 SNP rs7574865, with SSc as a whole.•None of the tested SNPs were risk factors for SSc-ILD specifically.•The STAT4 rs7574865 T allele was protective against the development of lung fibrosis in SSc patients.•Further work is required to understand the genetic basis of lung fibrosis in association with scleroderma.
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research