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    Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania

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    39
    Author
    Parks, T; Mirabel, MM; Kado, J; Auckland, K; Nowak, J; Rautanen, A; Mentzer, AJ; Marijon, E; Jouven, X; Perman, ML; ...
    Date
    2017-05-11
    Source Title
    Nature Communications
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    Steer, Andrew; Colquhoun, Samantha
    Affiliation
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Parks, T., Mirabel, M. M., Kado, J., Auckland, K., Nowak, J., Rautanen, A., Mentzer, A. J., Marijon, E., Jouven, X., Perman, M. L., Cua, T., Kauwe, J. K., Allen, J. B., Taylor, H., Robson, K. J., Deane, C. M., Steer, A. C. & Hill, A. V. S. (2017). Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania. NATURE COMMUNICATIONS, 8 (1), https://doi.org/10.1038/ncomms14946.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/259341
    DOI
    10.1038/ncomms14946
    Abstract
    The indigenous populations of the South Pacific experience a high burden of rheumatic heart disease (RHD). Here we report a genome-wide association study (GWAS) of RHD susceptibility in 2,852 individuals recruited in eight Oceanian countries. Stratifying by ancestry, we analysed genotyped and imputed variants in Melanesians (607 cases and 1,229 controls) before follow-up of suggestive loci in three further ancestral groups: Polynesians, South Asians and Mixed or other populations (totalling 399 cases and 617 controls). We identify a novel susceptibility signal in the immunoglobulin heavy chain (IGH) locus centring on a haplotype of nonsynonymous variants in the IGHV4-61 gene segment corresponding to the IGHV4-61*02 allele. We show each copy of IGHV4-61*02 is associated with a 1.4-fold increase in the risk of RHD (odds ratio 1.43, 95% confidence intervals 1.27-1.61, P=4.1 × 10-9). These findings provide new insight into the role of germline variation in the IGH locus in disease susceptibility.

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