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PPARD基因rs2016520多态性与大量中国成年人的代谢特征相关。

PPARD rs2016520 polymorphism is associated with metabolic traits in a large population of Chinese adults.

作者信息

Tang Lizhi, Lü Qingguo, Cao Hongyi, Yang Qiu, Tong Nanwei

机构信息

Division of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

Division of Endocrinology and Metabolism, Chengdu Fifth People's Hospital, Chengdu, Sichuan, China.

出版信息

Gene. 2016 Jul 10;585(2):191-5. doi: 10.1016/j.gene.2016.02.035. Epub 2016 Feb 23.

DOI:10.1016/j.gene.2016.02.035
PMID:26915488
Abstract

AIMS

Polymorphism of rs2016520 in gene PPARD has been associated with lipid metabolism, obesity, metabolic syndrome and type 2 diabetes mellitus (T2DM). We aimed to study the association of rs2016520 with common metabolic traits in a large population of Han Chinese adults.

METHODS

The polymorphism was genotyped in 1409 subjects using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF MS); all participants underwent standard clinical examination and a 75g oral glucose tolerance test (OGTT); associations between the polymorphism and metabolic traits and indices of insulin resistance and insulin sensitivity were analyzed.

RESULTS

There was no significant difference in genotypes between the normal glucose tolerance (NGT) and the prediabetes group (χ(2)=3.17, P=0.2), except a nominal difference of allele frequency (χ(2)=3.07, P=0.07). The G carrier presented lower fasting plasma glucose (FPG, P=0.03), lower 2h plasma glucose (Pdom=0.04) and lower fasting insulin (P=0.02), lower systolic blood pressure (SBP, P=0.03), lower HOMA-IR (P=0.02) and higher QUICKI (P=0.01). Moreover, rs2016520 polymorphism was associated with FPG (β=-0.09, P=0.05), it was also associated with indices of insulin resistance (HOMA-IR, β=-0.06, Pdom=0.02; fasting insulin, β=-0.04, P=0.02) and indices of insulin sensitivity (QUICKI, β=-0.01, P=0.004). In addition, we observed that the allele G was also associated with lower SBP (β=-1.29, P=0.04) and diastolic blood pressure (DBP, β=-0.09, P=0.01). However, the minor allele G was not associated with risk of metabolic disorders including prediabetes, overweight, hypertension and metabolic syndrome.

CONCLUSIONS

Polymorphism of rs2016520 in gene PPARD was associated with benign metabolic traits in a large cohort of Chinese adults. The G allele may confer protection from type 2 diabetes and hypertension in Han Chinese.

摘要

目的

过氧化物酶体增殖物激活受体δ(PPARD)基因的rs2016520多态性与脂质代谢、肥胖、代谢综合征及2型糖尿病(T2DM)相关。我们旨在研究rs2016520与大量汉族成年人群常见代谢特征的关联。

方法

采用基质辅助激光解吸/电离飞行时间质谱(MALDI-TOF MS)对1409名受试者的该多态性进行基因分型;所有参与者均接受标准临床检查及75g口服葡萄糖耐量试验(OGTT);分析该多态性与代谢特征以及胰岛素抵抗和胰岛素敏感性指标之间的关联。

结果

正常糖耐量(NGT)组与糖尿病前期组的基因型无显著差异(χ(2)=3.17,P=0.2),仅等位基因频率有微小差异(χ(2)=3.07,P=0.07)。携带G等位基因者空腹血糖(FPG,P=0.03)、餐后2小时血糖(Pdom=0.04)、空腹胰岛素水平(P=0.02)、收缩压(SBP,P=0.03)、稳态模型评估的胰岛素抵抗指数(HOMA-IR,P=0.02)较低,定量胰岛素敏感性检查指数(QUICKI,P=0.01)较高。此外,rs2016520多态性与FPG相关(β=-0.09,P=0.05),也与胰岛素抵抗指标(HOMA-IR,β=-0.06,Pdom=0.02;空腹胰岛素,β=-0.04,P=0.02)及胰岛素敏感性指标(QUICKI,β=-0.01,P=0.004)相关。另外,我们观察到等位基因G还与较低的SBP(β=-1.29,P=0.04)和舒张压(DBP,β=-0.09,P=0.01)相关。然而,次要等位基因G与包括糖尿病前期、超重、高血压和代谢综合征在内的代谢紊乱风险无关。

结论

PPARD基因的rs2016520多态性与一大群中国成年人的良性代谢特征相关。G等位基因可能对汉族人群的2型糖尿病和高血压具有保护作用。

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