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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 investigate the effect of Hind Ⅲ and Pvu Ⅱ polymorphisms of lipoprotein lipase (LPL) on plasma LPL concentration and serum triglyceride (TG) levels. Methods From September to October 1999, a stratified random sampling method was used to conduct cross-sectional survey in natural populations in Beijing. Non-heparinized plasma LPL concentrations and Hind III and Pvu Ⅱ polymorphisms of 670 male and 45 female were measured. Results (1) The frequencies of H1H1, H1H2 and H2H2 genotypes in HindⅢ locus of LPL genotype were 0.646,0.322 and 0.031, respectively. The genotype frequencies of P1P1, P1P2 and P2P2 genotypes were 0.410, 0.472 and 0.118 in PvuⅡ locus, There was no significant difference in the frequency of alleles between sexes. (2) LPL concentrations of type 12 heterozygotes (H1H2 and P1P2) and type 22 homozygotes (H2H2 and P2P2) at two loci were higher than those of type 11 homozygotes (H1H1 and P1P1) (P <0.01) There was a large variation in LPL concentration in genotypes. (3) The effect of smoking, alcohol consumption, body mass index (BMI) and waist circumference on the concentration of plasma LPL Among the H1H1 homozygotes of HindⅢ, the P1P1 homozygotes and the P1P2 heterozygotes of PvuII are more obvious. Multivariate analysis showed that smoking, overweight and abdominal obesity were independent influencing factors of LPL plasma concentration, with statistical significance (P <0.01). (4) The prevalences of hypertriglyceridemia of H1H1, H1H2 and H2H2 genotypes were 18.0%, 13.0% and 0 respectively, respectively, and those of P1P1, P1P2 and P2P2 were 21.8%, 12.7% and 7.6% Significance (P <0.05,0.01). The prevalence of hypercholesteremia decreased with LPL plasma concentrations within the same genotype (P <0.05 or 0.01). Conclusion LPL Hind Ⅲ and LPL Pvu Ⅱ base?