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Twin Research and Human Genetics
Article . 2019 . Peer-reviewed
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Article . 2019
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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

Authors: Good, David A.; Duffy, David L.; Good, Manuela; Guo, Cheng Xia; Busfield, Frances; Shaw, Anthony; Shaw, Joanne T. E.;

Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large Indigenous Australian Pedigree

Abstract

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.

Country
Australia
Keywords

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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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
bronze