ArticleJournal of human genetics2003
A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
Article in Journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 19 citations in OpenAlex.
- Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.Scientific reports · 2026Article
- Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Functional characterization of genetic polymorphisms identified in the promoter region of the bovine PEPS gene.DNA and cell biology · 2012Article
- Modelling human regulatory variation in mouse: finding the function in genome-wide association studies and whole-genome sequencing.PLoS genetics · 2012Review
- Human single-nucleotide polymorphisms alter p53 sequence-specific binding at gene regulatory elements.Nucleic acids research · 2011Article
- Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies.Mutation researchReview
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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