FTO和MC4R基因多态性与代谢综合征相关性状的关联研究
Study on Relationship between MC4R, FTO Gene Polymorphisms and Metabolic Syndrome-related Phenotypes
目的：探讨FTO基因rs9939609多态性和MC4R基因rs12970134多态性与代谢综合征相关性状之间的相关性。方法：从北京市18-79岁常住居民中选取983人，包括肥胖组441名，对照组542名。通过问卷调查、代谢综合征相关性状测量和基因多态性测定，对两个基因多态性和代谢综合征相关性状进行关联分析。结果：携带FTO基因rs9939609多态性A等位基因者发生代谢综合征的风险增加为1.53倍（95%CI：1.08～2.15, P=0.02）。携带MC4R基因rs12970134多态性A等位基因者发生肥胖的风险增加为1.42倍（95%CI：1.09～1.84, P=0.01）。每个rs12970134多态性A等位基因使血糖升高0.17mmol/L（95%CI：0.03～0.32, P=0.02）。携带两个以上FTO或MC4R风险等位基因者与没有携带风险等位基因者相比，肥胖发生风险增加为2.04倍（95%CI：1.25～3.33，P=0.004）。结论：FTO基因rs9939609多态性和MC4R基因rs12970134多态性在中国成人中与代谢综合征相关性状存在关联，为代谢综合征的预防和控制提供理论依据。
Objective To study relationship between MC4R, FTO gene polymorphisms and metabolic syndrome(MS)-related phenotypes in Chinese adults. Methods We selected 983 adults aged 18-79 years old in Beijing, including 441 obese, 542 normal-weight individuals. The questionnaire investigation, MS-related phenotypes measurement and genotyping of the rs9939609, rs12970134 polymorphisms were performed. Results The FTO rs9939609 polymorphism was associated with MS (OR=1.53, 95%CI=1.08-2.15, P=0.02). The MC4R rs12970134 polymorphism was associated with obesity (OR=1.42, 95%CI=1.09-1.84, P=0.01), fasting plasma glucose level (β=0.17, 95%CI=0.03～0.32, P=0.02). Compared to individuals carrying no FTO or MC4R risk allele, those with two or more risk alleles would have a 2.04-fold increased susceptibility of developing obesity (95%CI=1.25-3.33，P=0.004). Conclusion The FTO and MC4R gene polymorphisms were associated with MS-related phenotypes in Chinese adults, which provided theoretical evidence for prevention and control of MS.
许志远、宋洁云、王海俊、李刚
基础医学
儿少卫生FTOMC4R基因代谢综合征
hild and Adolescent healthFTOMC4RGeneMS
许志远,宋洁云,王海俊,李刚.FTO和MC4R基因多态性与代谢综合征相关性状的关联研究[EB/OL].(2011-01-04)[2025-08-18].http://www.paper.edu.cn/releasepaper/content/201101-114.点此复制
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