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基因多态性对血浆脂蛋白脂肪酶浓度及甘油三酯水平的影响 被引量:9

The effect of lipoprotein lipase (LPL) polymorphism on plasma LPL concentration and triglyceride
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摘要 目的研究脂蛋白脂肪酶(LPL)基因HindⅢ、PvuⅡ多态性对血浆LPL浓度和血清甘油三酯(TG)水平的影响。方法1999年9月至10月在北京市自然人群中采用分层随机抽样方法进行横断面调查。测定了670名45~64岁男女两性的非肝素化血浆LPL浓度及LPL基因HindⅢ、PvuⅡ多态性。结果(1)LPL基因型HindⅢ位点H1H1、H1H2和H2H2基因型的频率分别为0.646、0.322和0.031;PvuⅡ位点P1P1、P1P2和P2P2基因型的频率分别为0.410、0.472和0.118;基因型和等位基因的频率分布性别间差异无统计学意义。(2)两个基因位点的12型杂合子(H1H2和P1P2)和22型纯合子(H2H2和P2P2)的LPL浓度均高于11型纯合子(H1H1和P1P1)(P<0.01),同一基因型内LPL浓度有较大变异。(3)吸烟、饮酒、体重指数(BMI)及腰围对血浆LPL浓度的影响在HindⅢ的H1H1型纯合子中、PvuⅡ的P1P1型纯合子和P1P2型杂合子中较明显。多因素分析显示,吸烟、超重和腹部肥胖均为LPL血浆浓度的独立影响因素,具有统计学意义(P<0.01)。(4)H1H1、H1H2和H2H2三种基因型的高TG血症患病率分别为18.0%、13.0%和0,P1P1、P1P2和P2P2分别为21.8%、12.7%和7.6%,差异有统计学意义(P<0.05,0.01)。在同一基因型内随LPL血浆浓度的增高,高TG血症的患病率下降(P<0.05或0.01)。结论LPL HindⅢ和LPL PvuⅡ基? Objective To study the effect of lipoprotein lipase(LPL)-HindIII and PvuII polymorphisms on preheparin plasma LPL concentration and triglyceride. Methods A cross-sectional study was carried out in a general population of Beijing in 1999, using stratified-random sampling method. LPL-HindIII and PvuII polymorphism and preheparin plasma LPL concentration were determined in 670 individuals aged 45~64. Results (1)The frequencies of H1H1,H1H2,and H2H2 genotypes were 0.646,0.322, and 0.031 respectively; and the frequencies of P1P1, P1P2, and P2P2 genotypes were 0.410,0.472, and 0.118 respectively. The distribution of genotypes and that of alleles were homogeneous in both sexes. (2)The plasma LPL concentrations of the 12 type heterozygotes (H1H2 and P1P2) and those of the 22 type (H2H2 and P2P2) homozygotes were all higher than that of the 11 type homozygotes(H1H1 and P1P1)(all P<0.01). And the LPL concentration varied greatly among different individuals of the same genotype.(3)Smoking, alcohol consumption, BMI, and waist level influenced LPL concentration more significantly in the H1H1 and P1P1 homozygotes and P1P2 heterozygotes. Multivariate analysis showed that smoking and obesity were independent influencing factors of serum LPL concentration (both P<0.01). (4)The prevalence rate of hypertriglyceridemia was significantly different among different genotypes, the 11 type homozygotes having the highest rate, and the 22 type homozygotes having the lowest. In the same genotype, along with the increase of the serum LPL concentration the prevalence of hypertriglyceridemia decreased ^(P<0.05). Conclusion LPL-HindIII and PvuII polymorphisms are determinants of plasma LPL concentration. This genetic effect can be modified by some environmental factors, such as smoking and obesity.
出处 《中华医学杂志》 CAS CSCD 北大核心 2005年第19期1339-1343,共5页 National Medical Journal of China
基金 北京市心血管病高技术实验室课题基金资助项目(953850700)
关键词 基因多态性 血浆 脂蛋白脂肪酶 甘油三酯 Lipoprotein lipase Polymorphism, restriction fragment length Triglycerides
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