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Noncoding variations in the gene encoding ceramide synthase 6 are associated with type 2 diabetes in a large Indigenous Australian pedigree
Good, David A. Duffy, David L. Good, Manuela Guo, Cheng Xia Busfield, Frances Shaw, Anthony Shaw, Joanne T. E.
Good, David A.
Duffy, David L.
Good, Manuela
Guo, Cheng Xia
Busfield, Frances
Shaw, Anthony
Shaw, Joanne T. E.
Abstract
Type 2 diabetes (T2D) is a chronic disease that disproportionately affects Indigenous Australians. We have previously reported the localization of a novel T2D locus by linkage analysis to chromosome 2q24 in a large admixed Indigenous Australian pedigree (Busfield et al. (2002). American Journal of Human Genetics, 70, 349–357). Here we describe fine mapping of this region in this pedigree, with the identification of SNPs showing strong association with T2D: rs3845724 (diabetes p = 7 × 10−4), rs4668106 (diabetes p = 9 × 10−4) and rs529002 (plasma glucose p = 3 × 10−4). These associations were successfully replicated in an independent collection of Indigenous Australian T2D cases and controls. These SNPs all lie within the gene encoding ceramide synthase 6 (CERS6) and thus may regulate ceramide synthesis.
Keywords
chronic disease, diabetes, genetic association, indigenous health
Date
2019
Type
Journal article
Journal
Twin Research and Human Genetics
Book
Volume
22
Issue
2
Page Range
79-87
Article Number
ACU Department
School of Allied Health
Faculty of Health Sciences
Faculty of Health Sciences
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Open Access Status
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Controlled