Genetic Factors in Venous Thrombosis Risk
Author Information
Author(s): Germain Marine, Saut Noémie, Greliche Nicolas, Dina Christian, Lambert Jean-Charles, Perret Claire, Cohen William, Oudot-Mellakh Tiphaine, Antoni Guillemette, Alessi Marie-Christine, Zelenika Diana, Cambien François, Tiret Laurence, Bertrand Marion, Dupuy Anne-Marie, Letenneur Luc, Lathrop Mark, Emmerich Joseph, Amouyel Philippe, Trégouët David-Alexandre, Morange Pierre-Emmanuel
Primary Institution: INSERM UMR_S 937; ICAN Institute, Université Pierre et Marie Curie, Paris 6; Paris, France
Hypothesis
How many genes are involved in the susceptibility to venous thrombosis (VT) and what is their contribution to VT risk?
Conclusion
The study identified twelve SNPs associated with venous thrombosis risk, providing insights into the genetic factors contributing to the disease.
Supporting Evidence
- Twelve SNPs reached genome-wide significance, indicating strong genetic associations with VT.
- Common variants could explain about 35% of the genetic variance underlying VT susceptibility.
- Chromosome 20 was found to contribute approximately 7% of the total genetic variance for VT.
Takeaway
This study looked at how genes can make people more likely to get blood clots in their veins, finding some important genetic clues.
Methodology
A genome-wide association study (GWAS) was conducted with 1,542 cases and 1,110 controls, analyzing 551,141 SNPs.
Potential Biases
Controls were not matched to cases for gender and age, which could introduce bias.
Limitations
The study did not include patients with certain genetic risk factors, which may limit the generalizability of the findings.
Participant Demographics
Participants were mainly of French origin.
Statistical Information
P-Value
p<2.0×10−8
Statistical Significance
p<2.0×10−8
Digital Object Identifier (DOI)
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