Genome scan of venous thrombosis in a pedigree with protein C deficiency

J Thromb Haemost. 2004 Jun;2(6):868-73. doi: 10.1111/j.1538-7836.2004.00663.x.

Abstract

Kindred Vermont II has a high frequency of venous thrombosis, occurring primarily in pedigree members with type I protein C deficiency due to a 3363 inserted (Ins) C mutation in exon 6 of the protein C gene. However, only a subset of 3363 InsC carriers have suffered thrombotic episodes, suggesting that the increased risk of thrombosis results upon the co-occurrence of 3363 InsC with a second, unknown, thrombophilic mutation that segregates independently within the pedigree. To test this hypothesis and to localize the co-occurring gene, we performed a genome scan of venous thrombosis in Kindred Vermont II. Non-parametric linkage statistics identified three potential gene locations, on chromosomes 11q23 (nominal P < 0.0001), 18p11.2-q11.2 (P < 0.0007), and 10p12 (P < 0.0003), supporting the presence of at least one additional thrombophilic mutation in the pedigree. Identification of the unknown mutation(s) promises to reveal a new genetic risk factor for thrombophilia, contribute to our understanding of the blood clotting mechanism, and expand our knowledge of the diversity of oligogenic disease.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10
  • Chromosomes, Human, Pair 11
  • Family Health
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genomics / methods*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Protein C Deficiency / complications
  • Protein C Deficiency / genetics*
  • Thrombophilia / complications
  • Thrombophilia / genetics*
  • Venous Thrombosis / etiology
  • Venous Thrombosis / genetics*