ArticleAmerican journal of human genetics1998
An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 35 citations in OpenAlex.
- Genetic polymorphisms associated with carotid artery intima-media thickness and coronary artery calcification in women of the Kronos Early Estrogen Prevention Study.Physiological genomics · 2013Article
- The prothrombotic phenotypes in familial protein C deficiency are differentiated by computational modeling of thrombin generation.PloS one · 2012Article
- Mouse chromosome 17 candidate modifier genes for thrombosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2010Article
- Article
- Quantitative trait locus analysis for hemostasis and thrombosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2008Article
- Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia.American journal of human genetics · 2000Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
We used two-locus segregation analysis to test whether an unknown genetic defect interacts with protein C deficiency to increase susceptibility to venous thromboembolic disease in a single large pedigree. Sixty-seven pedigree members carry a His107Pro mutation in the protein C gene, which reduces protein C levels to a mean of 46% of normal. Twenty-one carriers of the mutation and five other pedigree members had verified thromboembolic disease. We inferred the presence in this pedigree of a thrombosis-susceptibility gene interacting with protein C deficiency, by rejecting the hypothesis that the cases of thromboembolic disease resulted from protein C deficiency alone and by not rejecting Mendelian transmission of the interacting gene. When coinherited with protein C deficiency, the interacting gene conferred a probability of a thrombotic episode of approximately 79% for men and approximately 99% for women, before age 60 years.
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Registered trials
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