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- Title
A promoter SNP (–1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
- Authors
Ono, Shuji; Ezura, Voichi; Eml, Mitsuru; Fujita, Vuko; Takada, Daisuke; Sato, Keiko; Ishigami, Tomoaki; Umemura, Satoshi; Takahashi, Kaneo; Kamimura, Kouhei; Bujo, Hideaki; Saito, Yasushi
- Abstract
Factors predisposing to the phenotypic features of higher total cholesterol (TC) have not been clearly defined. Here we report an association between a promoter SNP (-1323T>C) in G-substrate gene (GSBS) and TC levels in 368 adult individuals from an east-central area of Japan. Age and gender-adjusted levels of LDL-cholesterol, TG, TC, and HDL-cholesterol were analyzed. When we separate the subjects into two genotypic groups regarding T allele, those who bear the T allele had significantly higher plasma TC levels than the others who lack the T allele (mean; 239.6 mg/dl vs. 210.6 mg/dl; p=0.003; Mann–Whitney test). Of the 341 individuals with the T allele, approximately 80% individuals presented with hypercholesterolemia, whereas only 44% were hypercholesterolemic among the 27 individuals without the T allele (p=0.0001). These results indicate a significant elevating effect of plasma TC levels by a SNP in the putative regulatory region of the G-substrate gene in our studied population. These data suggest that genetic variation at the G-substrate gene may be one of the determinants for plasma lipoprotein levels.
- Subjects
JAPAN; CHOLESTEROL; HYPERCHOLESTEREMIA; GENETICS
- Publication
Journal of Human Genetics, 2003, Vol 48, Issue 9, p447
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s10038-003-0055-x