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KMID : 0381120080300050487
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Genes and Genomics
2008 Volume.30 No. 5 p.487 ~ p.497
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Genetic Variations of the Apolipoprotein B Gene in Korean People and Its Association with Hypercholesterolemia
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Kim Sung-Han
Kim Un-Kyung
Chae Jae-Jin
Baek Jeong-In
Choi Soo-Young
Bae Jae-Woong
Kim Sang-Hyun
Kim Hyo-Soo
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Abstract
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Genetic polymorphisms at the apolipoprotein B have been associated with elevated plasma concentrations of LDL, atherosclerosis and increased risk of coronary artery disease. 106 individuals composed of 46 hypercholesterolemic patients and 60 controls were analyzed with Ins/Del length polymorphism, four RFLPs (HincII, PvuII, AluI, EcoRI) and 3’-VNTR to clarify the characteristics of the apolipoprotein B gene and to determine their influence on the lipid profile of hypercholesterolemic patients and controls in Korea. A total of 212 apolipoprotein B alleles from six markers were identified in this study. Heterozygosityranges from zero to 0.32, and the genotyope frequencies in the case of 3’-VNTR are significantly different between two groups. Analysis of linkage disequilibrium revealed paired nonrandom associations between four pairs of polymorphic sites of the apolipoprotein B gene (p < 0.05). Moreover, addition of all 4 polymorphic sites provided the highest PIC value. This study also investigated the association of these polymorphisms with the patients and with variation in lipid levels. A significant association between 3’-VNTR genotypes and Lp(a) was observed in hypercholesterolemic patients (p < 0.05). The results suggest that genotypes of six polymorphic markers were not significantly associated with TC, TG or LDL-chol level between the patients and controls in the Koreans.
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KEYWORD
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apolipoprotein B gene, polymorphisms, hypercholesterolemia, genetics, coronary artery disease
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