Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large Indigenous Australian Pedigree. (23rd April 2019)

• Record Type: Journal Article
• Authors: Good, David A.; Duffy, David L.; Good, Manuela; Xia Guo, Cheng; Busfield, Frances; Shaw, Anthony; Shaw, Joanne T. E.
• Is Part Of: Twin research and human genetics. Volume 22:Number 2(2019)
• Page Start: 79
• Page End: 87
• Publication Date: 2019-04-23
• Subjects: chronic disease, -- diabetes, -- genetic association, -- indigenous health; Twins -- Periodicals; Multiple birth -- Periodicals; 618.25
• DOI: 10.1017/thg.2019.13
• Languages: English
• ISSNs: 1832-4274

Abstract

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.