Journal article

IFNL3 genotype is associated with pulmonary fibrosis in patients with systemic sclerosis

Mayada Metwally, Khaled Thabet, Ali Bayoumi, Mandana Nikpour, Wendy Stevens, Joanne Sahhar, Jane Zochling, Janet Roddy, Kathleen Tymms, Gemma Strickland, Susan Lester, Maureen Rischmueller, Gene-Siew Ngian, Jennifer Walker, Pravin Hissaria, Olfat Shaker, Christopher Liddle, Nicholas Manolios, Lorenzo Beretta, Susanna Proudman Show all

Scientific Reports | NATURE PUBLISHING GROUP | Published : 2019


Fibrosis across different organs and tissues is likely to share common pathophysiological mechanisms and pathways. Recently, a polymorphism (rs12979860) near the interferon lambda gene (IFNL3) was shown to be associated with fibrosis in liver across multiple disease etiologies. We determined whether this variant is a risk factor for pulmonary fibrosis (PF) and worsening cutaneous fibrosis in systemic sclerosis (SSc). Caucasian patients with SSc (n = 733) were genotyped to test for association with the presence of PF and worsening of skin fibrosis. Serum IFN-λ3 levels from 200 SSc cases were evaluated. An association of the IFNL3 polymorphism with PF was demonstrated (OR: 1.66 (95% CI: 1.142-..

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Awarded by National Health and Medical Research Council of Australia (NHMRC)

Awarded by NHMRC Fellowship

Funding Acknowledgements

We would like to thank all the patients for their participation in this study. ME and JG are supported by the Robert W. Storr Bequest to the Sydney Medical Foundation, University of Sydney, a National Health and Medical Research Council of Australia (NHMRC) Program Grant (1053206), Project grants (APP1107178 and APP1108422). MN is supported by an NHMRC Fellowship (APP1071735).