Abstract

Abstract Acute rheumatic fever (ARF) is an autoimmune condition caused by untreated Group A Streptococcal (GAS) infection of the upper respiratory tract (and possibly skin). Multiple or severe attacks of ARF can cause cardiac damage, known as Rheumatic Heart Disease (RHD). RHD remains a significant cause of morbidity and mortality is rare in developed countries. In New Zealand, the disease burden of ARF and RHD amongst Indigenous Maori and Pasifika communities is one of the highest in the world, usually affecting children and young adults. Previous work carried out in New Zealand sought to explore the immunogenetics of ARF and RHD and involved candidate gene analysis techniques utilizing samples from individuals diagnosed with RHD where a functional variant in the gene encoding the interleukin IL-6 cytokine known as IL-6 rs1800797 was found to be significantly associated with RHD. Current work seeks to explore the genetic susceptibility to ARF/RHD in greater depth using more advanced genome-wide technology. An international genome wide association study (GWAS) is currently underway to further understand the genetics of ARF/RHD using data obtained from global sources. To undertake the proposed GWAS work and amend the original New Zealand study, an Advisory team comprised of Pasifika and Māori representatives comprised of community leaders, researchers, scientists, and academics is providing the appropriate governance, cultural support and guidance essential for the project work.

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