Good David A, Duffy David L, Good Manuela, Xia Guo Cheng, Busfield Frances, Shaw Anthony, Shaw Joanne T E
Diabetes Research Laboratories, School of Clinical Medicine Prince Charles Hospital Northside Clinical Unit, Faculty of Medicine,University of Queensland,Brisbane,Queensland,Australia.
QIMR Berghofer Medical Research Institute,Brisbane,Queensland,Australia.
Twin Res Hum Genet. 2019 Apr;22(2):79-87. doi: 10.1017/thg.2019.13. Epub 2019 Apr 23.
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.
2型糖尿病（T2D）是一种对澳大利亚原住民影响尤为严重的慢性疾病。我们之前曾报道过，通过连锁分析在一个大型的澳大利亚原住民混合家系中，将一个新的T2D基因座定位到了2号染色体的2q24区域（Busfield等人，《美国人类遗传学杂志》，2002年，第70卷，第349 - 357页）。在此，我们描述了该家系中该区域的精细定位，鉴定出了与T2D显示出强关联的单核苷酸多态性（SNP）：rs3845724（糖尿病p = 7 × 10 - 4）、rs4668106（糖尿病p = 9 × 10 - 4）和rs529002（血浆葡萄糖p = 3 × 10 - 4）。这些关联在一组独立的澳大利亚原住民T2D病例和对照中成功得到了重复验证。这些SNP均位于编码神经酰胺合酶6（CERS6）的基因内，因此可能调节神经酰胺的合成。
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