| 黄爱群,胡永华,詹思延,吕筠,秦颖,曹卫华,李立明.中国成年人双生子中脂蛋白酯酶基因多态性位点单体型与血脂关联分析[J].中华流行病学杂志,2007,28(6):523-527 |
| 中国成年人双生子中脂蛋白酯酶基因多态性位点单体型与血脂关联分析 |
| AnaIysis on the association between two polymorphism hoplotypes of lipoprotein lipase gene and serum lipids in twins of China |
| 收稿日期: 出版日期:2014-09-12 |
| DOI： |
| 中文关键词: 血脂 脂蛋白酯酶基因 多态性 单体型 |
| 英文关键词: Lipids Lipoprotein Iipase gene P01ymorphism Haplotype |
| 基金项目:中华医学基金资助项目(01-746) |
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| 中文摘要: |
| 目的研究成年人双生子脂蛋白酯酶(LPL)基因s447x和HindⅢ多态性及其单体型与血脂的关联。方法基于双生子登记系统, 对双生子进行问卷、体检及血脂和LPL基因s447x、HindⅢ多态性的检测。对两多态性位点进行连锁不平衡检验并用sNPHAP软件进行单体型估计。结果共计入选合格成人双生子987对;LPL基因两多态性位点间存在着紧密的连锁不平衡。在女性双生子中, HindⅢ多态性位点的H一等位基因与三酰甘油(TG)水平下降及高TG血症发生风险降低的相关性在调整了x等位基因的作用后就消失了。两多态性位点的H-X单体型组合和TG水平降低12.9%(95%CI:一20.6～一4.5)、TG/HDL水平降低14.9%(95%CI:一21.4～一6.7)以及高TG血症发生危险降低(OR=0.40, 95%CI:0.21～O.79)均显著相关。结论LPL基因s447x和HindⅢ多态性位点的单体型与血脂水平的改善有关, 但这种相关主要由S447x多态性决定, 而HindⅢ多态性位点通过与x等位基因的连锁不平衡间接产生与血脂的关联。 |
| 英文摘要: |
| Objective To investigate the association between haplotypes of S447X and HindⅢpolymorphisms of lipoprotein lipase(LPL)gene and serum lipids in a population-based twin cohort study in China.Methods Twin subjects were collected based on the twin registry system of China.All twins were investigated by a standard questionnaire and physical examinations.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used to detect the genotypes of S447X and HindⅢ polymorp hisms.Linkage disequilibrium test and haplotypes were estimated between two polymorphisms.Results Nine hundred and eighty-seven pairs of twins were eligible for analysis.The two polynlorphisms of LPL gene were significantly linkage disequilibrium.In female twins, the H-a11ele of HindⅢpolymorphism was significantly related to lower levels of trig1ycerides(TG)and lower risk of high TG dislipidemia, but those associations disappeared after adjusting the p01ymorphism of S447X.The H X haplotype of those two polymorphisms was significantly related to lower TG and TGHDL(decreasing12.9%and 14.9%respectively), as well as significantly to lower risk of high TG dislipidemia(OR=O.40).Conclusion The haplotypes of S447X and HindⅢpolyrnorphisms were significantly related to the favorable effect of lipids, but this effect was mostly deternined by the polymorphism of S447X, while the effect of HindⅢ polymorphism was indirectly influenced by the linkage disequilibrium with S447X polymorphism. |
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