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Journal of Lipid Research, Vol. 46, 252-257, February 2005
Copyright © 2005 by American Society for Biochemistry and Molecular Biology
Department of Nutrition and Food Hygiene, Peking University Health Science Center, Beijing, China
1 To whom correspondence should be addressed. e-mail: yingxiao6753{at}vip.sina.com
Sterol regulatory element-binding protein 2 (SREBP-2) is an important nuclear transcription factor in the regulation of cellular cholesterol metabolism. To determine allele frequency of the 1784G>C polymorphism at the SREBP-2 locus and investigate the relationship between this polymorphism and serum lipid levels in Chinese people, we selected 486 individuals (118 men and 368 women) from the Xicheng District of Beijing. The subjects were divided into four groups: hypercholesterolemic subjects, hypertriglyceridemic subjects, combined hyperlipidemic subjects, and normal subjects. Serum lipid profiles were measured in all subjects, and 1784G>C was analyzed using polymerase chain reactionrestriction fragment length polymorphism analysis. There was no significant difference in genotype frequencies or allele frequencies of this polymorphism between the hyperlipidemic and control groups. The serum total cholesterol (TC) and LDL cholesterol (LDL-C) levels of the individuals carrying the C allele were higher than the noncarriers in both males and females in the hypercholesterolemic group, but statistical significance was only observed in females.
The results of this study indicate that the SREBP-2 polymorphism is related to elevated concentrations of serum TC and LDL-C in hypercholesterolemic subjects. Further work is necessary to confirm the role of 1784G>C in the development of hyperlipidemia.
Abbreviations: LDL-C, low density lipoprotein cholesterol; SCAP, SREBP cleavage-activating protein; SREBP-2, sterol regulatory element-binding protein 2; TC, total cholesterol; TG, triglyceride
Supplementary key words sterol regulatory element-binding protein 2 gene polymorphism hyperlipidemia
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