Research in Medicine

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Background: The aim of this study was to examine whether the well established effect of the common TaqI polymorphism in CETP gene on HDL-C concentration could be explained by the recently identified -629A/C functional polymorphism in the promoter. Material and method: To examine the association between A allele and HDL-C level, 943 healthy subjects enrolled in TLGS study were selected, among whom 335 were selected with the lowest, medium and highest deciles of HDL cholesterol levels. We accounted for factors that are known to influence HDL cholesterol level, such as smoking, body mass index and blood pressure. We amplified a segment of the mentioned gene with PCR and then revealed the polymorphism with RFLP. Result: The allele A frequency was higher in subjects with increased level of HDL. HDL level showed a significant difference between different genotypes (p<0.001). Homozygotes for the C allele had lower HDLC levels (37±11mg/dl) than subjects carrying the A allele (45±16mg/ml) (p<0.001). The percentile of AA allele in high HDL-C groups is higher than low HDL-C groups (33.7 and 19.2%, respectively). Conclusion: We have demonstrated that -629A/C polymorphism at the CETP gene is correlated with HDL cholesterol level. Also there was an association between TaqI polymorphism and -629A/C polymorphism.

Keywords: KEYWORDS: Cholesterol ester transfer protein, HDL, Polymorphism, Van91 I

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