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Korean Circ J. 2004 Dec;34(12):1158-1166. Korean. Original Article.
Moon JY , Cho EY , Kim WH , Choi SH , Ko YG , Park HY , Lee JH , Lee JE , Jang YS .
Division of Cardiology, Cardiovascular Center, Yonsei University College of Medicine, Seoul, Korea.
Cardiovascular Genome Center, Cardiovascular Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Department of Food and Nutrition, College of Human Ecology, Yonsei University, Seoul, Korea.
DNA link Inc, Seoul, Korea.

BACKGROUND AND OBJECTIVES: Apolipoprotein A-I is the major lipoprotein constituent of high density lipoprotein in plasma. In this study, the role of two polymorphisms in the apo A-I gene was investigated on the serum lipid profiles and apo A-I levels in healthy men and women. SUBJECTS AND METHODS: Blood samples were obtained from 417 subjects (M : F=169 : 248, mean age 47.2 years). The apo A-I genotypes were determined by SNP-IT assays using the SNPstream 25KTM system. RESULTS: The frequencies of the A allele at the XmnI restriction site and position -75 bp were 0.25/0.23 and 0.19/0.17 in men and women, respectively. A strong positive linkage disequilibrium (D'=0.990) between two polymorphisms was detected. In men, the A allele at the XmnI restriction site was associated with significantly lower levels of triglyceride (p=0.028) compared to the G/G subjects, but no significant associations were detected between the G-75A polymorphism and any of the lipid traits examined. In women, each A allele for the XmnI restriction site and -75 bp polymorphisms were significantly associated with higher levels of apo A-I (p=0.032 and p=0.012). In the multiple regression analysis, the HDL, being a current drinker and the A allele of the XmnI restriction site polymorphism were major determinants of the serum apo A-I levels in women (R2=0.272, p<0.05). CONCLUSION: Our study showed that the A allele at XmnI restriction site in the apo A-I gene was associated with decreased triglyceride levels in men. Each A allele of two polymorphisms was associated with an elevated apo A-I level in women.

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