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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 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.