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HEREDITAS ›› 2005, Vol. 27 ›› Issue (4): 549-552.

• 研究报告 • Previous Articles     Next Articles

Relationship between the R219K Polymorphism of ATP-Binding Cassette Transporter 1 Gene and Coronary Heart Disease

LI Ya , ZHANG Si-Zhong1, MA Yong-Xin,HE Yong,DONG Jing-Tao, SUN Yan,HE Guo-Ping, ZHANG Wei   

  1. Department of Medical Genetics , West China Hospital , Sichuan university, and the Key Laboratory of Biotherapy,Ministry of Education,Chengdu 610041 China
  • Received:2004-09-15 Revised:2004-10-21 Online:2005-08-10 Published:2005-08-10

Abstract: 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.

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