Journal article
Contribution of HLA and KIR Alleles to Systemic Sclerosis Susceptibility and Immunological and Clinical Disease Subtypes
AL Hanson, J Sahhar, GS Ngian, J Roddy, J Walker, W Stevens, M Nikpour, S Assassi, S Proudman, MD Mayes, TJ Kenna, MA Brown
Frontiers in Genetics | Published : 2022
Abstract
Systemic sclerosis (SSc) is an autoinflammatory, fibrotic condition of unknown aetiology. The presence of detectable autoantibodies against diverse nuclear antigens, as well as strong HLA associations with disease, suggest autoimmune involvement, however the links between endogenous and exogenous risk factors and SSc pathology remain undetermined. We have conducted a genetic analysis of HLA inheritance in two independent and meta-analysed cohorts of 1,465 SSc cases and 13,273 controls, including stratified association analyses in clinical and autoantibody positive subgroups of disease. Additionally, we have used patient genotypes to impute gene dosages across the KIR locus, encoding paired a..
View full abstractGrants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was in part supported by the National Health and Medical Research Council (NHMRC) Grant GNT1162767. The Australian Scleroderma Cohort Study is supported by Scleroderma Victoria, Scleroderma Australia, Arthritis Australia, Australian Rheumatology Association, philanthropic donations, Janssen, and GSK. MN is supported by an NHMRC Investigator Grant (GNT1176538).