Complex Association of Protein C Gene Promoter Polymorphism With Circulating Protein C Levels and Thrombotic Risk
| Autor: | Jean Amiral, Emmanuel Arnaud, Jean-Noël Fiessinger, Sophie Gandrille, Martine Aiach, Joseph Emmerich, Louis Guize, Viviane Nicaud, Martine Alhenc-Gelas |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Male Risk medicine.medical_specialty Biology Genetic determinism Internal medicine medicine Humans Allele Promoter Regions Genetic Gene Alleles Polymorphism Genetic Haplotype Thrombosis Promoter Middle Aged medicine.disease Confidence interval Endocrinology Haplotypes Female Cardiology and Cardiovascular Medicine Protein C medicine.drug |
| Zdroj: | Arteriosclerosis, Thrombosis, and Vascular Biology. 19:1573-1576 |
| ISSN: | 1524-4636 1079-5642 |
| DOI: | 10.1161/01.atv.19.6.1573 |
| Popis: | Abstract —The allele and haplotype frequency of the –1654 C/T and –1641 A/G protein C (PC) gene promoter polymorphisms was determined and analyzed according to circulating PC concentrations in 394 healthy subjects aged 20 to 60 years. The CG haplotype was associated with a lower PC concentration in both homozygous and heterozygous subjects compared with noncarriers. The TA allele had the reverse effect, but only in homozygotes. The distribution of the CG and TA alleles was significantly different in 242 patients, aged 17 to 60 years, with venous thromboembolism. The CG allele increased the risk of thrombosis, with an OR of 1.39 (95% confidence interval (CI), 1.04 to 1.87). The TA allele was protective in subjects aged TA was also significantly associated with older age at the first thrombosis. This study confirms the link between the PC gene promoter and circulating PC levels, and suggests a complex effect on the risk of thrombosis. |
| Databáze: | OpenAIRE |
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