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

Objective To explore the relationship between genetic variation in coagulat ion factor V and the occurrence of coronary arterial disease (CAD). Methods Unrelated 86 patients with CAD and 102 healthy controls were analyz ed by polymerase chain reaction-denaturing gradient gel electrophoresis (PC R-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 polymo rphism in exon 2 (327 A-->G) which did not result in amino acid residue sub stitution. The Leiden mutation (Arg506Gln) was not detected in any of our 1 88 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.