
To study the distribution of R219K polymorphism in ATP-Binding Cassette Transporter 1 (ABCA1) gene in Chinese Han population and the association of this polymorphism with coronary heart disease (CHD) . Genotypes were determined by PCR-RFLP approach in 417 unrelated healthy controls and 396 CHD patients. The frequencies of K allele and KK genotype for controls (0.465, 0.228) were significantly higher than those (0.381, 0.162) for patients (P<0.05). When the patients were divided into two subgroups by onset-age, the frequencies of K allele and KK genotype for early-onset patients (0.34, 0.111) were lower than those (0.419, 0.205) for late-onset patients and those for controls (P<0.05) , while there were no such differences between late-onset patients and controls. Patients with RR genotype had a higher plasma concentration of triglycerides (TG) when compared with that of KK genotype (P<0.05) . No significant differences of plasma high-density lipoprotein cholesterol (HDL-C) level were observed among patients with different genotypes. These data suggest that the R219K polymorphism in ABCA1 gene is correlated with CHD, and the ABCA1 gene KK genotype may has a function against atherosclerosis without detectable change of plasma HDL-C level in Chinese Han population.
Male, Polymorphism, Genetic, Genotype, Cholesterol, HDL, Coronary Disease, Middle Aged, Atherosclerosis, Polymerase Chain Reaction, Gene Frequency, Humans, ATP-Binding Cassette Transporters, Female, Genetic Predisposition to Disease, Alleles, Polymorphism, Restriction Fragment Length, Triglycerides, ATP Binding Cassette Transporter 1, Aged
Male, Polymorphism, Genetic, Genotype, Cholesterol, HDL, Coronary Disease, Middle Aged, Atherosclerosis, Polymerase Chain Reaction, Gene Frequency, Humans, ATP-Binding Cassette Transporters, Female, Genetic Predisposition to Disease, Alleles, Polymorphism, Restriction Fragment Length, Triglycerides, ATP Binding Cassette Transporter 1, Aged
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