Journal article

Genome-wide analysis of genetic risk factors for rheumatic heart disease in Aboriginal Australians provides support for pathogenic molecular mimicry

Lesley-Ann Gray, Heather D’Antoine, Steven Tong, Melita McKinnon, Dawn Bessarab, Ngiare Brown, Bo Reményi, Andrew Steer, Genevieve Syn, Jenefer Blackwell, Michael Inouye, Jonathan Carapetis

Published : 2017

Abstract

Background Rheumatic heart disease (RHD) following Group A Streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers pro-inflammatory cardiac valve-reactive T-cells. Methods Genome-wide genetic analysis was undertaken in 1263 Aboriginal Australians (398 RHD cases; 865 controls). Single nucleotide polymorphisms (SNPs) were genotyped using Illumina HumanCoreExome BeadChips. Direct typing and imputation was used to fine-map the human leukocyte antigen (HLA) region. Epitope binding affinities were mapped for human cross-reactive GAS proteins, including M5 and M6. Results The strongest genetic association was int..

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University of Melbourne Researchers

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