1. Influence of proband's characteristics on the risk for venous thromboembolism in relatives with factor V Leiden or prothrombin G20210A polymorphisms
- Author
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Paolo Simioni, Serena M. Passamonti, Ida Martinelli, Valerio De Stefano, Paolo Bucciarelli, Giancarlo Castaman, Cristina Legnani, Elena Rossi, Daniela Tormene, Michela Cini, P. Bucciarelli, V. D. Stefano, S. M. Passamonti, D. Tormene, C. Legnani, E. Rossi, G. Castaman, P. Simioni, M. Cini, and I. Martinelli
- Subjects
Adult ,Male ,Proband ,medicine.medical_specialty ,Genotype ,Superficial vein thrombosis ,Immunology ,Adult, Disease-Free Survival, Factor V ,Biochemistry ,Disease-Free Survival ,Genetic ,Risk Factors ,Internal medicine ,Factor V Leiden ,Humans ,Medicine ,Genetic Predisposition to Disease ,Superficial thrombophlebitis ,cardiovascular diseases ,Polymorphism ,genetics, Risk Factors, Venous Thromboembolism ,Polymorphism, Genetic ,biology ,business.industry ,Factor V ,Retrospective cohort study ,Venous Thromboembolism ,Cell Biology ,Hematology ,Middle Aged ,medicine.disease ,equipment and supplies ,Surgery ,epidemiology/genetics, Genotype, Humans, Male, Middle Aged, Polymorphism ,genetics, Female, Genetic Predisposition to Disease ,blood/epidemiology/genetics ,Settore MED/15 - MALATTIE DEL SANGUE ,Venous thrombosis ,genetics, Prothrombin ,biology.protein ,Prothrombin G20210A ,Female ,Prothrombin ,business - Abstract
In family studies, the risk for venous thromboembolism (VTE) in relatives with factor V Leiden (FVL) or G20210A prothrombin (PT20210A) gene polymorphisms may differ according to genotype and clinical presentation of the proband. To address this hypothesis, a retrospective cohort family study was carried out on 192 kindreds with at least one member with homozygous FVL or PT20210A, for a total of 886 relatives. The proband of the family was heterozygous in 68 and homozygous or with both polymorphisms in 124 kindreds. Twenty-three probands were asymptomatic, 11 had had arterial thrombosis, 7 obstetrical complications, and 151 venous thrombosis (122 VTE and 29 superficial vein thrombosis). The incidence of VTE (per 1000 patient-years) in relatives was higher when the proband had heterozygous rather than homozygous polymorphism (1.25 [95\% confidence interval (CI), 0.73-1.91] vs 0.44 [0.19-0.78]) and when the proband had had VTE instead of other or no clinical manifestations (0.95 [0.57-1.42] vs 0.50 [0.19-0.96]). Compared with relatives belonging to kindreds with homozygous probands without VTE, the adjusted hazard ratio of VTE for relatives selected from kindreds with heterozygous probands with VTE was 4.14 (95\% CI, 1.17-14.71). The genotype and clinical presentation of the proband influence the risk for VTE in relatives with FVL or PT20210A.
- Published
- 2013