Show simple item record

dc.contributor.authorParks, T
dc.contributor.authorMirabel, MM
dc.contributor.authorKado, J
dc.contributor.authorAuckland, K
dc.contributor.authorNowak, J
dc.contributor.authorRautanen, A
dc.contributor.authorMentzer, AJ
dc.contributor.authorMarijon, E
dc.contributor.authorJouven, X
dc.contributor.authorPerman, ML
dc.contributor.authorCua, T
dc.contributor.authorKauwe, JK
dc.contributor.authorAllen, JB
dc.contributor.authorTaylor, H
dc.contributor.authorRobson, KJ
dc.contributor.authorDeane, CM
dc.contributor.authorSteer, AC
dc.contributor.authorHill, AVS
dc.date.accessioned2021-02-04T01:22:34Z
dc.date.available2021-02-04T01:22:34Z
dc.date.issued2017-05-11
dc.identifierpii: ncomms14946
dc.identifier.citationParks, 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.
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11343/259341
dc.description.abstractThe 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.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleAssociation between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania
dc.typeJournal Article
dc.identifier.doi10.1038/ncomms14946
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleNature Communications
melbourne.source.volume8
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1210196
melbourne.contributor.authorSteer, Andrew
melbourne.contributor.authorColquhoun, Samantha
dc.identifier.eissn2041-1723
melbourne.accessrightsOpen Access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record