Defining genetic risk factors for scleroderma-associated interstitial lung disease

• DOI: 10.1007/s10067-019-04922-6
• Publication Date: 2020-01-08T23:02:27Z
• Authors: Carmel J. W. Stock; Angelo De Lauretis; Dina Visca; Cecile Daccord; Maria Kokosi; Vasilis Kouranos; George Margaritop...; Peter M. George; Philip L. Molyneaux; Svetlana Nihtyanova; Felix Chua; Toby M. Maher; Voon Ong; David J. Abraham; Christopher P. De...; Athol U. Wells; Louise V. Wain; Elisabetta A. Ren...
• Keywords: IRF5; SNP

Abstract Although several genetic associations with scleroderma (SSc) are defined, very little is known on susceptibility to SSc-associated interstitial lung disease (SSc-ILD). A number of common polymorphisms have been associated SSc-ILD, but most not replicated in separate populations. Four SNPs IRF5 , and one each STAT4 CD226 IRAK1 selected as having previously the consistently were genotyped 612 SSc patients, European descent, whom 394 had ILD. The control population ( n = 503) comprised individuals descent from 1000 Genomes Project. After Bonferroni correction, two SNPs, rs2004640 (OR (95% CI)1.30 (1.10–1.54), p corr 0.015) rs10488631 1.48 (1.14–1.92), 0.022), SNP rs7574865 1.43 (1.18–1.73), 0.0015) significantly compared controls. However, none different between patients SSc-ILD Two 1.72 (1.24–2.39), 0.0098), 1.39 (1.11–1.75), 0.03), showed a significant difference allele frequency controls without ILD, did 1.86 (1.45–2.38), 6.6 × 10 −6 ). ILD was only observed for rs7574865, being less frequent 0.66 (0.51–0.85), 0.0084). In conclusion, rs10488631, whole. Only T protective against Key points • We confirm None tested risk factors specifically. development fibrosis patients. Further work required understand basis association scleroderma.