Chen L, Patsch W, Boerwinkle E
Human Genetics Center, University of Texas Health Science Center, Houston 77225, USA.
Hum Genet. 1996 Nov;98(5):551-6. doi: 10.1007/s004390050258.
Lipoprotein lipase (LPL) is the rate limiting enzyme in the hydrolysis of core triglyceride in chylomicron and very low density lipoprotein (VLDL) thus affecting a broad spectrum of plasma lipid levels. In this paper, we investigated the association of a HindIII polymorphism in the LPL gene with plasma lipid levels and carotid artery wall thickness measured by B-mode ultrasonography. A total of 238 Caucasian subjects were selected from the Atherosclerosis Risk In Community (ARIC) study (male = 1.31, female = 107) based on their fasting triglyceride and LDL-cholesterol levels: normolipidemic (n = 48), hypertriglyceridemic (n = 44), hypercholesterolemic (n = 36), and hypertriglyceridemic-hypercholesterolemic (n = 110) groups. We observed a marginally significant association between lipid phenotypes and HindIII genotypes (P = 0.04) in males, with the hypertriglyceridemic and hypercholesterolemic groups having a higher frequency (0.65) of the H+H+ genotype than the other two groups (pooled: 0.55). In males, there was also a significant association between HindIII genotypes and carotid artery wall thickness after considering the effects of age, body mass index, cigarette smoking, lipid phenotype and diabetes status (P = 0.013), with the H+H+ genotype having a higher average value of carotid artery wall thickness (0.84 +/- 0.15 mm) than the other two genotype groups (0.76 +/- 0.14 mm in H+H(+)-genotype class, 0.75 +/- 0.13 mm in H-H- genotype class). In females, no significant associations among LPL HindIII genotype, lipid phenotype and carotid artery wall thickness were observed. These results suggest that the LPL HindIII polymorphism influences LPL-catalyzed, triglyceride-rich lipoprotein metabolism and carotid artery atherosclerosis in a gender-specific manner.
脂蛋白脂肪酶（LPL）是乳糜微粒和极低密度脂蛋白（VLDL）核心甘油三酯水解的限速酶，因此会影响多种血浆脂质水平。在本文中，我们研究了LPL基因中HindIII多态性与血浆脂质水平以及通过B型超声测量的颈动脉壁厚度之间的关联。基于空腹甘油三酯和低密度脂蛋白胆固醇水平，从社区动脉粥样硬化风险（ARIC）研究中选取了238名白种人受试者（男性 = 131名，女性 = 107名）：血脂正常组（n = 48）、高甘油三酯血症组（n = 44）、高胆固醇血症组（n = 36）以及高甘油三酯血症合并高胆固醇血症组（n = 110）。我们观察到男性的脂质表型与HindIII基因型之间存在边缘显著关联（P = 0.04），高甘油三酯血症组和高胆固醇血症组的H+H+基因型频率（0.65）高于其他两组（合并：0.55）。在男性中，考虑年龄、体重指数、吸烟、脂质表型和糖尿病状态的影响后，HindIII基因型与颈动脉壁厚度之间也存在显著关联（P = 0.013），H+H+基因型的颈动脉壁厚度平均值（0.84±0.15毫米）高于其他两个基因型组（H+H(+)-基因型组为0.76±0.14毫米，H-H-基因型组为0.75±0.13毫米）。在女性中，未观察到LPL HindIII基因型、脂质表型和颈动脉壁厚度之间的显著关联。这些结果表明，LPL HindIII多态性以性别特异性方式影响LPL催化的富含甘油三酯的脂蛋白代谢和颈动脉动脉粥样硬化。
