·糖尿病分子生物学与遗传学·

　　杨志明 郭淑霞 郭恒 张景玉 马儒林 芮东升 徐上知

　　作者单位：832002新疆石河子市，石河子大学医学院预防医学系(第一作者现在解放军国际关系学院门诊部工作)

　　通讯作者：郭淑霞

　　基金项目：“十一五”国家科技支撑计划资助项目(2009BAI82B04);

　　新疆生产建设兵团国际科技合作资助项目(2009YD33)

　　【摘要】 目的 探讨脂蛋白脂酶基因Hind Ⅲ和S447X多态性位点之间的连锁不平衡和单体型对新疆哈萨克族和汉族人群代谢综合征(MS)的影响。 方法 应用聚合酶链反应—限制性片段长度多态性法检测802例研究对象(包括哈萨克族和汉族MS患者各200例和对照各201例)的脂蛋白脂酶基因Hind Ⅲ和S447X基因多态性。 结果 (1)哈萨克族和汉族MS组H-和X等位基因频率均低于各自对照组[哈萨克族H-等位基因:22.0% vs 28.6% (P=0.031)，X等位基因5.5% vs 12.4% (P=0.001);汉族 H-等位基因:18.0% vs 28.9% (P=0.000)，X等位基因:4.0% vs 12.4% (P=0.000)]，但两民族间无差别(P均>0.05)。(2)脂蛋白脂酶基因Hind Ⅲ和S447X多态性位点之间存在强连锁不平衡。(3)该两个多态性位点之间只存在H+/S、H-/S和H-/X三种单体型，两个民族MS组与对照组之间单体型频率均有统计学差异(χ2哈萨克=13.17，P=0.001;χ2汉=20.68，P=0.000)，两民族间无差别(P>0.05)。(4)哈萨克族和汉族H+H-/H-H-基因型与SX/XX基因型的组合都有升高HDL-C水平和降低TG水平的作用(P<0.05)。 结论 脂蛋白脂酶基因Hind Ⅲ和S447X多态性与MS相关，两位点之间存在强连锁不平衡，H-/X单体型可能是MS的保护因素，并对血脂水平产生有益的影响。

　　【关键词】代谢综合征;脂蛋白脂酶;多态性，基因;单体型;连锁不平衡

　　doi:10.3969/j.issn.1006-6187.2011.03.002

　　Analysis of haplotype and linkage disequilibrium of lipoprotein lipase gene Hind Ⅲ and S447X in metabolic syndrome patients in Kazakh versus Han race of Xinjiang

　　YANG Zhi-ming, GUO Shu-xia, GUO Heng, et al. Department of Public Health of Medical College, Shihezi University,Xinjiang Shihezi 832002,China

　　Corresponding author：GUO Shu-xia

　　【Abstract】 Objective To investigate the effect of haplotype and linkage disequilibrium of lipoprotein lipase gene Hind Ⅲ and S447X on metabolic syndrome in Kazakh versus Han race of Xinjiang. Methods

　　The lipoprotein lipase gene Hind Ⅲ and S447X genotypes were detected by PCR-RFLP method in 802 subjects, including 201 controls and 200 metabolic syndrome patients in Kazakh and Han race, respectively. Results (1)The frequencies of H- and X allele for metabolic syndrome group in Kazakh and Han race were all significantly lower than for controls( Kazakh,H- allele:22% vs 28.6%, P=0.031; X allele:5.5% vs 12.44%, P=0.001. Han race, H-allele: 18% vs 28.86%, P=0.000;X allele: 4% vs 12.44%, P=0.000). The frequencies of lipoprotein lipase gene Hind Ⅲ and S447X genotypes and alleles in Kazakh were not significantly different from Han race(all P>0.05).(2)Significant linkage disequilibrium was observed between lipoprotein lipase gene Hind Ⅲ and S447X polymorphisms.(3)Only three haplotypes were found between lipoprotein lipase gene Hind Ⅲ and S447X polymorphisms: H+/S, H-/S and H-/X,and the frequencies of haplotypes were significantly different between MS and control group in Kazakh and Han race(χ2ka=13.173，P=0.001;χ2Ha

　　=20.689，P=0.000)，but there was no significant difference in frequencies in the haplotypes between Kazakh and Han race(P>0.05).(4)The combination of H+H-/H-H- and SX/XX genotype was associated with significantly lower level of TG and higher level of HDL-C in Kazakh or Han race. Conclusions The lipoprotein lipase gene Hind Ⅲ and S447X polymorphisms are associated with metabolic syndrome in Kazakh and Han race. There is a very strong linkage disequilibrium between lipoprotein lipase gene Hind Ⅲ and S447X polymorphisms. The H-/X haplotype may serve as protective factor of metabolic syndrome and have beneficial effect on blood lipids.

　　【Key words】Metabolic syndrome; Lipoprotein lipase; Polymorphism, gene; Haplotype; Linkage disequilibrium