Abstract
Only a minority of subjects with factor V (FV) Leiden mutation develop venous thromboembolism (VTE), suggesting that additional genetic risk factors may be present in symptomatic carriers. We screened 157 unrelated carriers of the FV Leiden mutation with a first episode of VTE and 291 unrelated asymptomatic FV carriers for the presence of two frequent mutations, i.e. G20210A of the prothrombin gene and C677T of the methylenetetrahydrofolate reductase gene. Carriers with other inherited or acquired thrombophilia- associated abnormalities were excluded from analysis. Heterozygotes for the G20210A mutation were more prevalent among symptomatic carriers than in asymptomatic carriers (10.8% v 2.7%, P <0.0001) homozygotes for the C677T mutation were also more prevalent in symptomatic carriers (21.6% v 14.4%, P = 0.05). Factor V Leiden carriers who had had a VTE episode during oral contraceptive intake were more frequently carriers of the G20210A mutation (14.3%, P = 0.03). These results further support the idea that VTE in carriers of FV Leiden results from interaction with additional genetic or circumstantial risk factors, and that an accurate search for such factors is required to identify carriers at risk.
| Original language | English |
|---|---|
| Pages (from-to) | 871-876 |
| Number of pages | 6 |
| Journal | British Journal of Haematology |
| Volume | 103 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 1998 |
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Keywords
- FV Leiden
- Homocysteine
- Prothrombin
- Thrombophilia
ASJC Scopus subject areas
- Hematology
Cite this
Additional genetic risk factors for venous thromboembolism in carriers of the factor V Leiden mutation. / Tosetto, Alberto; Rodeghiero, Francesco; Martinelli, Ida; De Stefano, Valerio; Missiaclia, Edoardo; Chiusolo, Patrizia; Mannucci, Pier Mannuccio.
In: British Journal of Haematology, Vol. 103, No. 3, 1998, p. 871-876.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Additional genetic risk factors for venous thromboembolism in carriers of the factor V Leiden mutation
AU - Tosetto, Alberto
AU - Rodeghiero, Francesco
AU - Martinelli, Ida
AU - De Stefano, Valerio
AU - Missiaclia, Edoardo
AU - Chiusolo, Patrizia
AU - Mannucci, Pier Mannuccio
PY - 1998
Y1 - 1998
N2 - Only a minority of subjects with factor V (FV) Leiden mutation develop venous thromboembolism (VTE), suggesting that additional genetic risk factors may be present in symptomatic carriers. We screened 157 unrelated carriers of the FV Leiden mutation with a first episode of VTE and 291 unrelated asymptomatic FV carriers for the presence of two frequent mutations, i.e. G20210A of the prothrombin gene and C677T of the methylenetetrahydrofolate reductase gene. Carriers with other inherited or acquired thrombophilia- associated abnormalities were excluded from analysis. Heterozygotes for the G20210A mutation were more prevalent among symptomatic carriers than in asymptomatic carriers (10.8% v 2.7%, P <0.0001) homozygotes for the C677T mutation were also more prevalent in symptomatic carriers (21.6% v 14.4%, P = 0.05). Factor V Leiden carriers who had had a VTE episode during oral contraceptive intake were more frequently carriers of the G20210A mutation (14.3%, P = 0.03). These results further support the idea that VTE in carriers of FV Leiden results from interaction with additional genetic or circumstantial risk factors, and that an accurate search for such factors is required to identify carriers at risk.
AB - Only a minority of subjects with factor V (FV) Leiden mutation develop venous thromboembolism (VTE), suggesting that additional genetic risk factors may be present in symptomatic carriers. We screened 157 unrelated carriers of the FV Leiden mutation with a first episode of VTE and 291 unrelated asymptomatic FV carriers for the presence of two frequent mutations, i.e. G20210A of the prothrombin gene and C677T of the methylenetetrahydrofolate reductase gene. Carriers with other inherited or acquired thrombophilia- associated abnormalities were excluded from analysis. Heterozygotes for the G20210A mutation were more prevalent among symptomatic carriers than in asymptomatic carriers (10.8% v 2.7%, P <0.0001) homozygotes for the C677T mutation were also more prevalent in symptomatic carriers (21.6% v 14.4%, P = 0.05). Factor V Leiden carriers who had had a VTE episode during oral contraceptive intake were more frequently carriers of the G20210A mutation (14.3%, P = 0.03). These results further support the idea that VTE in carriers of FV Leiden results from interaction with additional genetic or circumstantial risk factors, and that an accurate search for such factors is required to identify carriers at risk.
KW - FV Leiden
KW - Homocysteine
KW - Prothrombin
KW - Thrombophilia
UR - http://www.scopus.com/inward/record.url?scp=0031761182&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031761182&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2141.1998.01028.x
DO - 10.1046/j.1365-2141.1998.01028.x
M3 - Article
C2 - 9858248
AN - SCOPUS:0031761182
VL - 103
SP - 871
EP - 876
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 3
ER -