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

被引：0
作者：
Good, David A. [1 ]
Duffy, David L. [2 ]
Good, Manuela [1 ]
Xia Guo, Cheng [1 ]
Busfield, Frances [1 ]
Shaw, Anthony [1 ]
Shaw, Joanne T. E. [1 ,2 ]
机构：
[1] Univ Queensland, Prince Charles Hosp, Diabet Res Labs, Sch Clin Med,Northside Clin Unit,Fac Med, Brisbane, Qld, Australia
[2] QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia
来源：
TWIN RESEARCH AND HUMAN GENETICS | 2019年 / 22卷 / 02期
基金：
澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;
关键词：
chronic disease; diabetes; genetic association; indigenous health; CORONARY-HEART-DISEASE; BODY-MASS INDEX; ABORIGINAL COMMUNITY; INSULIN-RESISTANCE; GLUCOSE-TOLERANCE; G6PC2; GENE; ALPHA-GENE; MUTATIONS; OBESITY; HYPERINSULINEMIA;
D O I：
10.1017/thg.2019.13
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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 x 10(-4)), rs4668106 (diabetes p = 9 x 10(-4)) and rs529002 (plasma glucose p = 3 x 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.
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收藏
页码：79 / 87
页数：9
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