Clinical Genetics · 2004 · 52 citations · 23 references
Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsGenetic RiskGenetic Risk FactorsGenotype-phenotype Association AnalysisGenotype-phenotype CorrelationLipid MetabolismLipid Profile AnalysisLipid Profile Effects
Two polymorphisms, apolipoprotein A5 (APOA5) -1131T>C and apolipoprotein C3 (APOC3) -482C>T, were examined in a healthy Chinese group. Analysis of covariance (ancova) showed that both -1131T>C and -482C>T minor alleles were associated with triglyceride (TG)-raising effects (p < 0.001 and p = 0.012, respectively) after adjustment of sex, age, and body mass index (BMI). Moreover, -1131T>C minor alleles were also found to be associated with total cholesterol (TC)-raising effects (p = 0.045). However, the relationship between -482C>T minor alleles and TC-raising effects was not observed after adjustment of sex, age, and BMI. By contrast, significant inverse associations were noted between minor alleles (-1131T>C and -482C>T) and high-density lipoprotein cholesterol (HDL-C) concentrations (p = 0.021 and p = 0.021, respectively). Linear regression analysis showed that the effects of -1131T>C and -482C>T polymorphisms on TG and HDL-C (0.001 and 0.008; 0.041 and 0.005, respectively) are independent and additive and that -1131T>C can seriously affect the levels of TG (0.001 vs 0.008). The additive effect of the two polymorphisms was confirmed further by haplotype analysis. Our results strongly support that the two single nucleotide polymorphisms, -1131T>C in APOA5 and -482C>T in APOC3, are related to the levels of serum TG and HDL-C and those of other several lipids and lipoproteins in the Chinese population.
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John E. Hokanson, Melissa A. Austin · Journal of Cardiovascular Risk · 1996 · 1.7K citations
An E-M algorithm and testing strategy for multiple-locus haplotypes.
Jeffrey C. Long, R C Williams, Margrit Urbanek · PubMed · 1995 · 535 citations