Additional genetic risk factors for venous thromboembolism in carriers of the factor V Leiden mutation

Alberto Tosetto, Francesco Rodeghiero, Ida Martinelli, Valerio De Stefano, Edoardo Missiaclia, Patrizia Chiusolo, Pier Mannuccio Mannucci

Research output: Contribution to journalArticle

57 Citations (Scopus)

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 languageEnglish
Pages (from-to)871-876
Number of pages6
JournalBritish Journal of Haematology
Volume103
Issue number3
DOIs
Publication statusPublished - 1998

Fingerprint

Venous Thromboembolism
Mutation
Methylenetetrahydrofolate Reductase (NADPH2)
Thrombophilia
Factor V
Homozygote
Prothrombin
Heterozygote
Oral Contraceptives
Genes
factor V Leiden

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 journalArticle

Tosetto, Alberto ; Rodeghiero, Francesco ; Martinelli, Ida ; De Stefano, Valerio ; Missiaclia, Edoardo ; Chiusolo, Patrizia ; Mannucci, Pier Mannuccio. / Additional genetic risk factors for venous thromboembolism in carriers of the factor V Leiden mutation. In: British Journal of Haematology. 1998 ; Vol. 103, No. 3. pp. 871-876.
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