| A Novel Missense Mutation （L^296Q） in Cholesteryl Ester Transfer Protein Gene Related to Coronary Heart Disease |
| |
| 作者姓名： | Zheng KQ Zhang SZ Zhang L Huang DJ Liao LC Hou YP |
| |
| 作者单位： | Department of Medical Genetics,West China Hospital; Division of Human Morbid Genomics,Key Laboratory ofBiotherapy of
Human Diseases of Ministry of Education,Sichuan University,Chengdu 610041,China;
Department of Cardiology,West China Hospital,Sichuan University,Chengdu 610041,China;
School of Basic and Forensic Medicine,Sichuan University,Chengdu 610041,China |
| |
| 基金项目： | This work was supported by the grants from the National Natural Science Foundation of China (No. 39993420),the National High Technology Research and Development Program (863 program) (No. 2001AA224021-03),the National Key Science and Technology Prog |
| |
| 摘 要： | Cholesteryl ester transfer protein (CETP) is a key participant in the reverse transport of cholesterol from the peripheral tissues to the liver. To understand the role that CETP gene plays in the pathogenesis of coronary heart disease (CHD) , the promoter region, all 16 exons and adjacent intronic regions of CETP gene were screened for single nucleotide polymorphisms (SNPs) in 203 CHD patients and 209 controls by a combination of PCR, denaturing high performance liquid chromatography (DHPLC), molecular cloning, and DNA sequencing. A novel missense mutation in the CETP gene was identified. This mutation (L296Q) was a T-to-A conversion at codon 296 of exon 10 which replaced the codon for leucine (CTG) with the codon for glutamine (CAG). Association study revealed that L296Q mutation was associated with CHD with a significantly higher mutant allele frequency in the CHD patients than that in the controls (0. 160 vs. 0.091,x2= 9.014, P = 0.003), and that the odds ratio for the development of CHD was 1.83 for
|
| 关 键 词： | 胆固醇基酯转移蛋白基因 CETP CHD 冠心病 错义变异 血脂 单核苷酸多态性 |
A novel missense mutation (L296 Q) in cholesteryl ester transfer protein gene related to coronary heart disease |
| |
| Zheng KQ,Zhang SZ,Zhang L,Huang DJ,Liao LC,Hou YP.A novel missense mutation (L296 Q) in cholesteryl ester transfer protein gene related to coronary heart disease[J].Acta Biochimica et Biophysica Sinica,2004,36(1):33-36. |
| |
| Authors: | Zheng Ke-Qin Zhang Si-Zong Zhang Li Huang De-Jia Liao Lin-Chuan Hou Yi-Ping |
| |
| Institution: | Department of Medical Genetics, West China Hospital; Division of Human Morbid Genomics, Key Laboratory of Biotherapy of Human Diseases of Ministry of Education, Sichuan University, Chengdu 610041, China. szzhang@mcwcum.com |
| |
| Abstract: | Cholesteryl ester transfer protein (CETP) is a key participant in the reverse transport of cholesterol from the peripheral tissues to the liver. To understand the role that CETP gene plays in the pathogenesis of coronary heart disease (CHD) , the promoter region, all 16 exons and adjacent intronic regions of CETP gene were screened for single nucleotide polymorphisms (SNPs) in 203 CHD patients and 209 controls by a combination of PCR, denaturing high performance liquid chromatography (DHPLC), molecular cloning, and DNA sequencing. A novel missense mutation in the CETP gene was identified. This mutation (L296Q) was a T-to-A conversion at codon 296 of exon 10 which replaced the codon for leucine (CTG) with the codon for glutamine (CAG). Association study revealed that L296Q mutation was associated with CHD with a significantly higher mutant allele frequency in the CHD patients than that in the controls (0. 160 vs. 0.091,x2= 9.014, P = 0.003), and that the odds ratio for the development of CHD was 1.83 for the 296Q allele carriers relative to 296LL homozygotes. Statistical analyses demonstrated that the mutant 296Q allele earrier patients displayed significantly higher total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) concentrations than non-carrier patients. The results of the present study suggest that the L296Q mutation is related to CHD, and the identification of new mutations in the CETP gene will afford the opportunity to investigate the relationship between CETP gene and CHD. |
| |
| Keywords: | cholesteryl ester transfer protein gene (CETP gene) coronary heart disease (CHD) missense mutation plasma lipids single nucleoti de polymorphism (SNP) |
| 本文献已被 CNKI 维普 PubMed 等数据库收录！ |
|
