
doi: 10.1017/thg.2019.13
pmid: 31012404
AbstractType 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 (diabetesp= 7 × 10−4), rs4668106 (diabetesp= 9 × 10−4) and rs529002 (plasma glucosep= 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.
Male, 2716 Genetics (clinical), genetic association, indigenous health, Polymorphism, Single Nucleotide, Chronic disease, 2729 Obstetrics and Gynaecology, Sphingosine N-Acyltransferase, Humans, Genetic Predisposition to Disease, Indigenous health, diabetes, Diabetes, Australia, Membrane Proteins, Middle Aged, Perinatology, Pedigree, and Child Health, Diabetes Mellitus, Type 2, Genetic association, Female, 2735 Pediatrics, chronic disease, Genome-Wide Association Study
Male, 2716 Genetics (clinical), genetic association, indigenous health, Polymorphism, Single Nucleotide, Chronic disease, 2729 Obstetrics and Gynaecology, Sphingosine N-Acyltransferase, Humans, Genetic Predisposition to Disease, Indigenous health, diabetes, Diabetes, Australia, Membrane Proteins, Middle Aged, Perinatology, Pedigree, and Child Health, Diabetes Mellitus, Type 2, Genetic association, Female, 2735 Pediatrics, chronic disease, Genome-Wide Association Study
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