Arg485Lys polymorphism of factor V increases the risk of coronary artery disease in a Chinese population

作者：Le, W; Yu, JD^*; Lu, L; Tao, R; You, B; Cai, X; Gao, WJ; Huang, W; He, RM; Chen, Z; Gong, LS

来源：Chinese Medical Journal, 2000, 113(11): 963-966.

• coagulation factor V
• coronary heart disease
• polymetnse chain reaction-denaturing gradient
• gel electrophoresis

Objective To explore the relationship between genetic variation in coagulation factor V and the occurrence of coronary arterial disease (CAD).
Methods Unrelated 86 patients with CAD and 102 healthy controls were analyzed by polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) to detect variations in the entire twenty-five exons of the factor V gene.
Results Polymorphisms in exon 4 [642 G --> T (Ser156)], exon 10 [1628 G --> A (Arg485Lys)], exon 13 [4070 A --> G (His1299Arg)] and exon 16 [5380 G --> A (Val1736Met)] were documented. The study also identified a novel polymorphism in exon 2 (327 A-->G) which did not result in amino acid residue substitution. The Leiden mutation (Arg506Gln) was not detected in any of our 188 subjects. Among the 5 polymorphisms, the allele frequency of 1628 G-->A was significantly different between CAD patients and controls (0.69 vs 0.81, chi (2) = 6.908, P < 0.01). This is the first report of this finding in a Chinese population.
Conclusion 1628 G --> A polymorphism is associated with CAD and it may be a risk factor for CAD morbidity in the Chinese population.

• 出版日期2000-11
• 单位上海市闵行区中心医院