Noncoding variations in the gene encoding ceramide synthase 6 are associated with type 2 diabetes in a large Indigenous Australian pedigree

Journal article


Good, David A., Duffy, David L., Good, Manuela, Guo, Cheng Xia, Busfield, Frances, Shaw, Anthony and Shaw, Joanne T. E.. (2019). Noncoding variations in the gene encoding ceramide synthase 6 are associated with type 2 diabetes in a large Indigenous Australian pedigree. Twin Research and Human Genetics. 22(2), pp. 79 - 87. https://doi.org/10.1017/thg.2019.13
AuthorsGood, David A., Duffy, David L., Good, Manuela, Guo, Cheng Xia, Busfield, Frances, Shaw, Anthony and 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.

Keywordschronic disease; diabetes; genetic association; indigenous health
Year2019
JournalTwin Research and Human Genetics
Journal citation22 (2), pp. 79 - 87
PublisherCambridge University Press
ISSN1832-4274
Digital Object Identifier (DOI)https://doi.org/10.1017/thg.2019.13
Scopus EID2-s2.0-85064928021
Page range79 - 87
Research GroupSchool of Allied Health
Publisher's version
File Access Level
Controlled
Place of publicationUnited Kingdom
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