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
Authors | Good, David A., Duffy, David L., Good, Manuela, Guo, Cheng Xia, Busfield, Frances, Shaw, Anthony and Shaw, Joanne T. E. |
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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 |
Year | 2019 |
Journal | Twin Research and Human Genetics |
Journal citation | 22 (2), pp. 79 - 87 |
Publisher | Cambridge University Press |
ISSN | 1832-4274 |
Digital Object Identifier (DOI) | https://doi.org/10.1017/thg.2019.13 |
Scopus EID | 2-s2.0-85064928021 |
Page range | 79 - 87 |
Research Group | School of Allied Health |
Publisher's version | File Access Level Controlled |
Place of publication | United Kingdom |
https://acuresearchbank.acu.edu.au/item/88w93/noncoding-variations-in-the-gene-encoding-ceramide-synthase-6-are-associated-with-type-2-diabetes-in-a-large-indigenous-australian-pedigree
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