3q27基因片段4个单核苷酸多态性位点与腹型肥胖的关系  

The association of four single nucleotide polymorphism sites on chromosome 3q27 with abdominal obesity in Chinese population

作　　者：平智广[1] 刘莉[2] 付晓丽[1] 王爱英[1] 

机构地区：[1]郑州大学公共卫生学院,河南郑州450001 [2]郑州大学基础医学院,河南郑州450001

出　　处：《现代预防医学》2014年第22期4107-4111,共5页Modern Preventive Medicine

基　　金：教育部高等学校博士学科点专项科研基金(20094101120011);国家自然科学基金(81001280;81202277);河南省科技攻关项目(112102310198)

摘　　要：目的探讨3q27基因片段4个SNPs位点多态性与腹型肥胖的关系,为其防治提供理论依据。方法对河南省某县528人进行人体测量学及代谢相关指标检测,采用连接酶检测反应技术(rs11721044)和Snapshot技术(rs11926347、rs9843456和rs1916636)进行SNPs检测。结果各SNP位点满足哈温平衡,与Hapmap计划中东亚人群(中国、日本、居住于美国的中国人)比较无统计学差异。rs11721044仅检出TT(522例)和CT基因型(6例)。TT组腰围、腰臀比、腰身比大于CT组,高密度脂蛋白低于CT组,P值均小于0.05。单倍型分析未发现连锁不平衡。rs9843456及rs1916636各基因型间代谢指标和人体测量学指标不存在差异。rs11926347位点仅检出GG基因型。结论所选4个位点基因型和等位基因的分布在一定程度上能够代表我国汉族人群;rs11721044基因多态性与我国汉族成年男性腹型肥胖和高密度脂蛋白水平相关。Objective The aim of this study was to investigate 4 SNPs on chromosome 3q27 and explore their effect on adults abdominal obesity in Chinese Han population, in order to supply the theoretical basis for the prevention and control of abdominal obesity. Methods There were 528 unrelated adult residents of a county in Henan Province who enrolled in this study for determining the anthropometrlc and related metabolic indicators. The SNPs were then identified by ligase detection reaction （LDR） assay （for rs11721044） and Snapshot assay （for rs11926347, rs9843456 and rs1916636）. Frequencies of genotypes and alleles were studied and their relationships with the anthropometric and related metabolic indicators were analyzed. Results For all the subjects including 198 males （37.5%） and 330 females （62.5%）, all SNPs were in Hardy-Weinberg equilibrium. There were no differences in allele and genotype frequencies between the population in this study and four East Asia populations （Chinese, Japanese and Chinese in America） from HapMap project. CC homozygote of rs11721044 was not found, TY （522 persons） and CT （6 persons） were detected. TI＂ homozygote had a larger waist circumference, waist to hip ratio, waist height ratio and lower high-density lipoprotein compared to CT genotypes. P value were all less than 0.05. Linkage disequilibrium was not found by haplotype analysis. No differences in metabolic and anthropometry indicators were detected between genotypes of rs9843456 and rs1916636. Only GG genotype was identified at rs11926347. Conclusion Population in this study represents the Han group in our country well in the genotypes and frequencies of genotypes of the 4 SNPs. Polymorphisms of rs11721044 could be associated with abdominal obesity and high-density lipoprotein of Chinese Han adults.

关 键 词：3q27 单核苷酸多态性 腹型肥胖 单倍型 

分 类 号：R446[医药卫生—诊断学]