title: Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: a meta-analysis.
abstract: A polymorphism caused by a G-to-A substitution in the promoter area (-75 bp) of the apolipoprotein AI (apo A-I) bene is common in the general population. Several studies have investigated its association with apo A-I levels, but the results were conflicting. Here, we undertook meta-analyses to increase the statistical power to further detect this association. Meta-analyses were first performed for each gender and then on the combined data. The overall sample in this meta-analysis included over 3,000 healthy individuals. Results from healthy individuals suggest that the rare allele A is associated with mildly increased apo A-I levels by about 5 mg/dl (95% CI 2.84 - 6.94). This association is weaker among healthy females than males. The present study cannot determine whether this small but significant association was due to a small genetic effect of the A/G polymorphism, or whether the A/G polymorphism is in linkage disequilibrium with a true mutant allele at a quantitative trait locus controlling apo A-I levels. Although smoking status may interact with genotypes, only three studies investigated this interaction and thus no conclusion could be drawn in this regard.
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA. hjuo@linkage.rockefeller.edu
authors.forename: S H
authors.initials: SH
authors.lastname: Juo
authors.forename: D F
authors.initials: DF
authors.lastname: Wyszynski
authors.forename: T H
authors.initials: TH
authors.lastname: Beaty
authors.forename: H Y
authors.initials: HY
authors.lastname: Huang
authors.forename: J E
authors.initials: JE
authors.lastname: Bailey-Wilson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016632:Apolipoprotein A-I / Q000235:genetics* / Q000378:metabolism*; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012907:Smoking / Q000009:adverse effects / Q000235:genetics
chemical_list: D016632:Apolipoprotein A-I