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

Autor:	Good DA; Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia., Duffy DL; QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia., Good M; Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia., Xia Guo C; Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia., Busfield F; Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia., Shaw A; Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia., Shaw JTE; Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia.
Jazyk:	angličtina
Zdroj:	Twin research and human genetics : the official journal of the International Society for Twin Studies [Twin Res Hum Genet] 2019 Apr; Vol. 22 (2), pp. 79-87. Date of Electronic Publication: 2019 Apr 23.
DOI:	10.1017/thg.2019.13
Abstrakt:	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.
Databáze:	MEDLINE
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