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.
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Acknowledgments
We thank Mitsuko Kajita, Mina Kodaira, Miho Kawagoe, Kyoko Shimizu, Mayumi Tanaka, and Naoko Tsuruta for their expert technical assistance. This work was supported by a grant for Strategic Research from the Ministry of Education, Science, Sports and Culture of Japan; by a Research Grant for Research from the Ministry of Health and Welfare of Japan; by a Research for the Future Program Grant of The Japan Society for the Promotion of Science.
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Ono, S., Ezura, Y., Emi, M. et al. A promoter SNP (–1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia. J Hum Genet 48, 447–450 (2003). https://doi.org/10.1007/s10038-003-0055-x
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DOI: https://doi.org/10.1007/s10038-003-0055-x
