Xu J, Wang J, Chen B
Endocrinology Department of Southwest Hospital, Third Military Medical University, Chongqing, China.
Genet Mol Res. 2012 May 24;11(2):1592-8. doi: 10.4238/2012.May.24.1.
In recent genome-wide association studies, variants in the SLC30A8 gene have been found to be associated with risk for type 2 diabetes. We examined a possible association of tag SNPs spanning SLC30A8 and their haplotypes with type 2 diabetes in the Chinese Han population. There were 1508 Chinese Han type 2 diabetes patients and 1500 age- and gender-matched control subjects; all were genotyped for three tagging SNPs (rs2466295, rs4876703, and rs11558471) of the human SLC30A8 gene. The AA genotype of rs11558471 was found significantly more frequently in type 2 diabetes patients than in controls (46 vs 24%). The frequency of the A-C-A haplotype was significantly higher in type 2 diabetes patients than in controls (0.331 vs 0.120). The frequency of the A-C-G haplotype was significantly lower in type 2 diabetes patients than in controls (0.160 vs 0.365). We conclude that type 2 diabetes is associated with the AA genotype of rs11558471 in the human SLC30A8 gene. The A-C-A haplotype appears to be a risk factor and the A-C-G haplotype may be a protective factor against type 2 diabetes in Chinese Han.
在最近的全基因组关联研究中，已发现溶质载体家族30成员8（SLC30A8）基因中的变异与2型糖尿病风险相关。我们在中国汉族人群中研究了跨越SLC30A8的标签单核苷酸多态性（tag SNPs）及其单倍型与2型糖尿病之间可能存在的关联。共有1508例中国汉族2型糖尿病患者和1500例年龄及性别匹配的对照受试者；对所有人进行了人类SLC30A8基因的三个标签SNP（rs2466295、rs4876703和rs11558471）的基因分型。发现rs11558471的AA基因型在2型糖尿病患者中的出现频率显著高于对照组（46%对24%）。A-C-A单倍型在2型糖尿病患者中的频率显著高于对照组（0.331对0.120）。A-C-G单倍型在2型糖尿病患者中的频率显著低于对照组（0.160对0.365）。我们得出结论，2型糖尿病与人类SLC30A8基因中rs11558471的AA基因型相关。在中国汉族人群中，A-C-A单倍型似乎是2型糖尿病的一个风险因素，而A-C-G单倍型可能是一个保护因素。
