《中国康复理论与实践》

《中国康复理论与实践》 ›› 2015, Vol. 21 ›› Issue (10): 1162-1167.

• 基础研究 • 上一篇    下一篇

GABABR2基因遗传变异与肥胖及代谢相关表型的关系

职庭帆 1，石蕊 2，徐珉杰 1，解端阳 1，郑丽娟 3，蒋晓燕 1   

  1. 1.同济大学医学院病理学与病理生理学系，心律失常教育部重点实验室，上海市 200092；2.同济大学附属东方医院妇产科，上海市 200120；3.复旦大学生命科学院遗传所，现代人类学教育部重点实验室，上海市 200438。
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-10-25 发布日期:2015-10-25

Relationship of GABABR2 Polymorphism with Obesity and Metabolic Phenotype

ZHI Ting-fan1, SHI Rui2, XU Min-jie1, XIE Duan-yang1, ZHENG Li-juan3, JIANG Xiao-yan1   

  1. 1. Department of Pathology and Pathophysiology, Key Laboratory of Arrhythmias of Minisitry of Education of China, Tongji University School of Medicine, Shanghai 200092, China; 2. Department of Gynaecology and Obstetrics, East Hospital, Tongji University School of Medicine, Shanghai 200120, China; 3. State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai 200438, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-10-25 Online:2015-10-25

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摘要： 目的 探讨 G蛋白家族 GABABR2基因 rs3750344和 rs1435252位点的多态性是否是维吾尔族及汉族肥胖的遗传易感因素。方法 流行病学调查采集新疆维吾尔族人 785名及济南市妇幼保健院体检汉族人 425名，检测体质量指数(BMI)、总胆固醇(Tch)、甘油三脂(TG)、空腹血糖(Glu)浓度等暴露指标。用 Taqman基因分型平台进行 rs3750344与 rs1435252基因分型。用 Haploview 软件进行连锁不平衡分析和单倍型分析。结果 维吾尔族人群 GABABR2 基因 rs1435252 位点 AA 基因型携带者在超重组(12.5%)同非超重组(6.6%)相比频率有显著性差异，AA基因型携带者发生超重风险显著增加(OR=1.43, 95%CI: 1.06~1.91)。汉族人群 A等位基因携带者在肥胖组(80.0%)同非肥胖组(65.2%)相比频率有显著性差异，A等位基因携带者发生肥胖风险显著增加(OR=2.13, 95%CI: 1.18~3.86)。另外，rs3750344位点C等位基因显著降低维吾尔族人肥胖的发生(OR=0.69, 95%CI: 0.49~0.97)，但调整性别年龄后此显著性消失。结论 rs1435252多态性A等位基因在维吾尔族和汉族人群中增加超重或肥胖发生的风险。

关键词: GABABR2基因, 多态性, 肥胖, 维吾尔族, 汉族

Abstract: Objective To investigate the association of the polymorphism of rs3750344 and rs1435252 of G-protein family GABABR2 gene with obesity in population of Uygur and Han. Methods 785 Uygur subjects from Xinjiang and 425 Han subjects from Jinan Maternity and Child Care Hospital were recruited by epidemiology survey. Exposure indicators such as body mass index (BMI), total cholesterol (Tch), triglyceride (TG), fasting glucose (Glu) concentration were measured. Two single nucleotide polymorphisms (SNPs) of rs3750344 and rs1435252 of GABABR2 gene were typed with Taqman. Linkage disequilibrium and haplotype were analysed with Haploview software. Results The frequency of rs1435252 was significantly different in AA carries of Uygur subjects between overweight group (12.5%) and normal weight group (6.6%), the subject with AA genotype significantly increased risk of overweight (OR=1.43, 95% CI: 1.06~1.91). The frequency of rs1435252 was significantly different in A alleles carries of Han subjects between obesity group (80.0%) and normal weight group (65.2%), the subject with A alleles significantly increased risk of obesity (OR=2.13, 95%CI: 1.18~3.86). The C alleles of rs3750344 significantly decreased risk of obesity (OR=0.69, 95%CI: 0.49~0.97) in Uygur, but the significance disappeared after controlling for covariates of age and gender. Conclusion The rs1435252 A allele of GABABR2 gene is a risk factor for overweight or obesity in population of Uygur and Han.

Key words: GABABR2 gene, polymorphism, obesity, Uygur, Han