The Gly482Ser variant of the PPARGC1 gene is associated with Type 2 diabetes mellitus in northern Chinese, especially men
The Gly482Ser variant of the PPARGC1 gene is associated with Type 2 diabetes mellitus in northern Chinese, especially men
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DOI：
10.1111/j.1464-5491.2006.01949.x
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发表时间：
2006-10-01
影响因子：
3.5
通讯作者：
Wang, L.
中科院分区：
文献类型：
--
作者：
Sun, L.;Yang, Z.;Wang, L.
目的研究PPARGC 1基因Gly 482 Ser多态性在中国北方人群中的分布情况，探讨其与胰岛素抵抗及相关疾病的易感性。390例无关的T2 DM患者和525例正常糖耐量的对照受试者。记录临床参数和胰岛素抵抗指标。结果Gly 482 Ser多态性在北方人群中较为常见，在中国汉族人群中分布较广，在中国汉族人群中分布较广。单因素分析显示，糖尿病患者和对照组Gly 482 Ser多态性的等位基因频率或基因型频率无统计学显著差异（次要482 Ser等位基因频率44.4% vs.41.4%，P = 0.169）。Logistic回归分析显示，Ser/Ser基因型的T2 DM患病风险是对照组的1.645倍（P = 0.039，95%CI = 1.026-2.632）。按性别分层后，Ser/X基因型男性患2型糖尿病的风险是Gly/Gly基因型男性的1.852倍（95%CI = 1.125-3.049）（P = 0.015）。结论PPARGC 1基因Gly 482 Ser多态性可能与中国北方人群T2 DM的易感性有关。PPARGC 1基因Gly 482 Ser多态性的Ser/X基因型可能是中国北方男性2型糖尿病的危险因素。
Aims To investigate the prevalence of the Gly482Ser polymorphism of the PPARGC1 gene in a northern Chinese population and to clarify the susceptibility of individuals with the Gly482Ser polymorphism to insulin resistance and related diseases.Methods We studied the association of the Gly482Ser polymorphism identified in the PPARGC1 gene with Type 2 diabetes mellitus (T2DM) in 390 unrelated patients with T2DM and 525 control subjects with normal glucose tolerance. Clinical parameters and measures of insulin resistance were recorded. Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, which was further confirmed by direct sequencing in 20 randomly selected cases.Results The Gly482Ser polymorphism was common in the northern Chinese population. Univariate analysis indicated no statistically significant differences in allele frequencies or genotype frequencies of the Gly482Ser polymorphism in diabetic and control subjects (minor 482Ser allele frequency 44.4 vs. 41.4%, P = 0.169). However, logistic regression analysis demonstrated a positive 1.645-fold higher risk of the Ser/Ser genotype for T2DM (P = 0.039, 95% CI = 1.026-2.632). After stratification by gender, the risk of Type 2 diabetes in men was increased 1.852-fold (95% CI = 1.125-3.049) in those with the Ser/X genotype compared with those with the Gly/Gly genotype (P = 0.015). No associations were observed between the Gly482Ser polymorphism and parameters of insulin resistance, obesity and hypertension.Conclusion The Gly482Ser variant of the PPARGC1 gene might contribute to susceptibility to T2DM in northern Chinese subjects. The Ser/X genotype of the Gly482Ser polymorphism in the PPARGC1 gene appears to be a risk factor for T2DM in northern Chinese men.