PPARγ基因Pro12Ala多态性与体质指数及瘦素关系的双生子研究.docVIP

 n PPARγ基因 Pro12Ala 多态性与体质指数 及瘦素关系的双生子研究# 陈天娇，季成叶，王莹* 5 10 15 20 25 30 35 （北京大学公共卫生学院/儿童青少年卫生研究所，北京 100191） 摘要：目的：探讨过氧化物酶体增殖物激活受体 PPARγ 基因 Pro12Ala 多态性与肥胖及瘦 素的相关性。方法：6～18 岁异卵双生子 112 对，DNA 鉴定卵性。进行体格测量及瘦素测 定，聚合酶链反应-限制性片段长度多态性检测 Pro12Ala 多态性。患病同胞对方法分析多态 性与各性状的相关性。结果：Pro，Ala 等位基因频率分别为 94.6%和 5.4%。IBS(identity by state)为 2 时体质指数，体脂率，腰臀围比及瘦素在双生子两者间比 IBS 为 1 时相关系数大， 且相关具显著性。携带有 12Ala 等位基因的双生子各指标均值均小于不携带者，但差异无 显著性。结论： 12Ala 等位基因突变与反映肥胖程度的 BMI，体脂率和腰臀围比密切相 关，与瘦素密切相关，但仍待进一步研究。 关键词：儿童青少年；基因多态性；过氧化物酶体增殖物激活受体γ ；瘦素；体质指数；双 生子 中图分类号：R197 Q987 Association of Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma with body mass index and leptin: twin study CHEN Tianjiao, JI Chengye, WANG Ying (Institute of Child and Adolescent Health, School of Public Health, Peking University, Beijing 100191) Abstract: Objectives: To study the association of Pro12Ala polymorphism in peroxisome proliferator-activated receptor (PPAR) gamma with obesity and leptin. Methods: 112 twin pairs aged 6-18 years were investigated. Microsatellite polymorphism (STR) was used to diagnose zygosity of twins. Anthropometric indexes and leptin were measured. Polymerase chain reaction(PCR)-restriction fragment length polymorphism(RFLP) was used to determine the polymorphism of Pro12Ala in PPARγ gene. Results: Pro, Ala allele frequencies were 94.6% and 5.4%, respectivly. The correlations of body mass index, percent of body fat, waist-hip ratio and leptin between twins which shared 2 alleles (IBS=2) were higher than those in twins which shared 1 allele (IBS=1), and the correlations are significant in twins which shared 2 alleles. 12Ala allele carriers had lower body mass index, percent of body fat, waist-hip ratio and leptin than non-carriers but the differences were not significant. Conclusions: Pro12Ala polymorphism of the PPARγ gene is associated with body mass index, percent of body fat, waist-hip ratio and leptin. Future study is needed. Key words: Child and adolescent; gene polymorphism; p