Linkage of the cholesterol 7α-hydroxylase gene and low-density lipoprotein cholesterol conditional on apolipoprotein E association: The National Heart, Lung, and Blood Institute Family Heart Study

Jing Ping Lin, Richard H. Myers, Laura Almasy, Hilary H. Coon, Donna K. Arnett, Yuling Hong, Steven C. Hunt

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations

    Abstract

    Background: Genetic factors account for approximately 50% of the individual variation in plasma low-density lipoprotein cholesterol (LDL-C) concentrations in the general population. Several candidate genes have been proposed but their relative contributions to the variance in LDL-C are not known, except for apolipoprotein E (apoE). We report here an investigation of the relationship between LDL-C and cholesterol 7α-hydroxylase (CYP7), as well as apoE and low-density lipoprotein receptor (LDLR), three pivotal genes in LDL metabolism. Methods: Our study population included more than 200 nuclear families with increased coronary heart disease (CHD) risk from the National Heart, Lung, and Blood Institute (NHLBI) Family Heart Study. Variance-component linkage methods, a measured genotype approach, and a variance-component linkage analysis conditional on a measured genotype association were used. Results: The results showed significant linkage between a genetic determinant of plasma LDL-C concentrations and a polymorphism near CYP7 with its allelic variation accounting for 27% of the total LDL-C variation. There is significant association between plasma LDL-C concentrations and apoE genotypes. Conditional on the apoE association, the total LDL-C variation accounted by allelic variation of a polymorphism near CYP7 was increased significantly. Conclusion: Our results suggest the apoE and CYP7 may be two important genes accounting for the genetic variation of plasma LDL-C concentrations in a population with cardiovascular diseases.

    Original languageEnglish (US)
    Pages (from-to)362-369
    Number of pages8
    JournalChinese Medical Journal
    Volume118
    Issue number5
    StatePublished - Mar 5 2005

    Keywords

    • CYP7
    • Linkage analysis
    • Low-density lipoprotein cholesterol
    • apoE gene

    ASJC Scopus subject areas

    • Medicine(all)

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