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Association between genetic variations of apo AI-CIII-AIV cluster gene and hypertriglyceridemic subjects

¹ Departments of Molecular Biology and
² Biology, SRC for Cell Differentiation, Seoul National University, Seoul, Korea.

³ Department of Clinical Pathology, Dankook University Hospital, Cheonan, Korea.

⁴ Department of Clinical Pathology, Seoul National University Hospital, Seoul, Korea.
^a Address correspondence to this author at: Division of Clinical Chemistry, Department of Clinical Pathology, Seoul National University Hospital, 28 Yongon-dong, Chongno-gu, Seoul 110–744, Korea. Fax 82-2-745-6653.

Several studies have suggested that genetic variations of the apolipoprotein (apo) AI-CIII-AIV cluster gene are associated with hyperlipidemia or atherosclerosis. These investigations were carried out mainly with Caucasian groups; there have been few associated studies involving non-Caucasian groups. This study was conducted to elucidate the association between five restriction fragment length polymorphisms (RFLPs) of the apo AI-CIII-AIV cluster gene and Korean hypertriglyceridemic subjects. The rare allele frequencies of the XmnI and SstI polymorphic sites in the patients were significantly higher than those of the control group (P <0.05). These two polymorphic sites had relation to linkage disequilibrium in the hypertriglyceridemic subjects ( = -0.2733). In addition, S2 allele frequency of the SstI RFLP in Koreans was more frequent than that of Caucasians reported previously. The rare allele of XmnI and SstI polymorphic sites was associated with increased triglyceride concentrations in the hypertriglyceridemic group (P <0.005). Koreans have a much lower prevalence of hyperlipidemia than Caucasians. Nevertheless, this study showed a similar trend with results from Caucasian groups, thereby confirming that genetic variations of the apo AI-CIII-AIV cluster gene are likely to be significant markers for hypertriglyceridemic sub-jects. Thus, RFLP loci of the apo AI-CIII-AIV cluster gene may be a useful genetic marker for clinical or population studies.

Key Words: indexing terms: hypertriglyceridemia • restriction fragment length polymorphism • allele frequency • atherosclerosis

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