回汉族中老年人群芳香化酶基因多态性与糖代谢的关联性研究
Association between polymorphisms of CYP19A1 gene and glucosemetabolism of middle-aged and elderly Hui and Han populations

摘要：目的 研究芳香化酶基因单核苷酸多态性在宁夏城市地区回汉族中老年人群中的基因频率分布特点及其与糖代谢的关联性。方法 以整群抽样的方法选取宁夏城市社区的回汉族中老年人1 850例，对样本进行基因分型并测定其空腹血糖和胰岛素水平，分析芳香化酶基因单核苷酸多态性与糖代谢的相关性。结果 芳香化酶基因的3个SNPs基因频率的分布在回汉族之间差异无统计学意义；汉族中老年男性和女性rs10519299 CC或CG者的空腹血糖水平均高于GG者(P=0.028，0.018)，回族男性rs2414096 AG或GG者的空腹血糖水平高于AA者(P=0.014)；汉族男性rs10046、rs10519299及rs2414096不同基因型的胰岛素抵抗指数差异有统计学意义(P=0.024，P=0.003，P=0.003)，校正混杂因素的影响后仅rs10519299基因型与汉族男性的胰岛素抵抗指数相关(P=0.014)；回族男性rs10519299 GG基因型携带者发生糖尿病的风险明显降低(OR=0.163，P=0.012)。结论 芳香化酶基因3个SNPs的基因分布在回汉族之间的分布差异无统计学意义，但芳香化酶基因多态性与回汉族中老年人群糖代谢具有相关性。
ABSTRACT: Objective To study the allele distributions of SNPs in CYP19A1 gene and the association between these SNPs with glucose metabolism of middle-aged and elderly Hui and Han populations in urban area of Ningxia, China. Methods We used cluster sampling method to recruit 1850 subjects from Hui and Han middle-aged and elderly people in Yinchuan communities, Ningxia. SNPs genotyping was performed; fasting blood glucose and fast insulin were measured among the subjects. The correlation of aromatase gene single nucleotide polymorphism with glucose metabolism was investigated. Results The distributions of genotypes and alleles of the 3 SNPs in the CYP19A1 gene did not differ significantly between Hui and Han groups. Among Han males and females, CC and CG genotypes of rs10519299 were associated with higher glucose levels compared with GG genotype (P=0.028, P=0.018, respectively). Only among those Hui males who had AG or GG genotype of rs2414096 were associated with higher glucose levels compared those with AA genotype (P=0.014). Significant difference in insulin resistance index was associated with different genotypes of rs10046, rs10519299 and rs2414096 among Han males (P=0.024, P=0.003, P=0.003). After adjusting several confounders, we found that the genotypes of rs10519299 were also related to insulin resistance index (P=0.014). Among the Hui males, GG genotype of rs10519299 was associated with a lower risk of diabetes (OR=0.163，P=0.012). Conclusion There is no ethnic difference in genotypic distributions of these 3 SNPs in the CYP19A1 gene in the studied Han and Hui populations, but CYP19A1 polymorphism was associated with glucose metabolism among middle-aged and elderly Hui and Han populations