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 a nd the occurrence of coronary arterial disease (CAD). Methods Unrelated 86 patients with CAD and 102 healthy controls were analyzed by polymer ase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) to detec t 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 polymorphi sms, the allele frequency of 1628 G→A was significantly different between CAD p atients and controls (0.69 vs 0.81, x(2) =6.908, P<0.01).This is the f irst 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 CA D morbidity in the Chinese population.