| Autor: |
Ding-Liang Zhu, Lang-Sheng Gong, Wen-Jun Cao, Xu Cai, Bei You, Zhu Chen, Rong Tao, Lin Lu, Wei Le, Wei Huang, Jin-De Yu, Ru-Min He |
| Rok vydání: |
2000 |
| Předmět: |
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| Zdroj: |
Clinical Genetics. 57:296-303 |
| ISSN: |
0009-9163 |
| Popis: |
Inherited predisposition to thrombosis contributes to the initiation and progression of coronary artery disease (CAD). The present study was designed to explore the relationship between genetic variation of coagulation factor V and occurrence of CAD. A total of 141 unrelated patients with CAD and 175 healthy controls were analyzed by polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) for variation detection in all 25 exons of the factor V gene. Among the study subjects, 55 CAD patients and 73 controls were evaluated at random for response to activated protein C (APC) by Coatest APC resistance test. Polymorphisms in exon 4, 10, 13 and 16 of factor V gene were documented [642G → T(S156), 1628 → A(R485K), 4070A → G(H1299R) and 5380G → A(V1736M), respectively]. The study also identified a novel polymorphism 327A → G in exon 2 which did not alter the amino acid residue. Leiden mutation (R506Q) was not detected in any of our 316 subjects. Among the five polymorphisms, the allele frequency of 1628G → A was significantly different between the CAD patients and the controls (0.36 vs. 0.21, p < 0.05). Subjects homozygous or heterozygous for the A allele of 1628G → A polymorphism had lower normalized APC ratios than those with the GG genotype in the CAD group (1.16 ± 0.13 and 1.18 ± 0.23 vs. 1.36 ± 0.33, p < 0.05) and in the controls, indicating that A 1628 allele was associated with a poor response to APC. We conclude that the 1628G → A (R485K) polymorphism of factor V is associated with a poor response to APC and increased risk for CAD. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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