title: A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
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.
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan.
authors.forename: Shuji
authors.initials: S
authors.lastname: Ono
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Ezura
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan. memi@nms.ac.jp.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Emi
authors.forename: Yuko
authors.initials: Y
authors.lastname: Fujita
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Takada
authors.affiliation: Second Department of Internal Medicine, Yokohama City University School of Medicine, Yokohama, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Sato
authors.affiliation: Second Department of Internal Medicine, Yokohama City University School of Medicine, Yokohama, Japan.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Ishigami
authors.affiliation: Second Department of Internal Medicine, Yokohama City University School of Medicine, Yokohama, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Umemura
authors.affiliation: Awa Medical Association Hospital, Chiba, Japan.
authors.forename: Kaneo
authors.initials: K
authors.lastname: Takahashi
authors.affiliation: Awa Medical Association Hospital, Chiba, Japan.
authors.forename: Kouhei
authors.initials: K
authors.lastname: Kamimura
authors.affiliation: Department of Genome Research and Clinical Application, Chiba University Graduate School, Chiba, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Bujo
authors.affiliation: Department of Clinical Cell Biology, Chiba University Graduate School, Chiba, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Saito
mesh_terms: D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D014280:Triglycerides / Q000097:blood
chemical_list: D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; C029152:G-substrate; D009419:Nerve Tissue Proteins; D014280:Triglycerides; D002784:Cholesterol; D011494:Protein Kinases