Genetic Factors Influencing vWF and FVIII Plasma Levels
Author Information
Author(s): Antoni Guillemette, Tiphaine Oudot-Mellakh, Apostolos Dimitromanolakis, Marine Germain, William Cohen, Philip Wells, Mark Lathrop, France Gagnon, Pierre-Emmanuel Morange, David-Alexandre Tregouet
Primary Institution: UMR_S 937, INSERM, Paris, France
Hypothesis
The study aims to identify novel single nucleotide polymorphisms (SNPs) that could influence the variability of vWF and FVIII plasma levels.
Conclusion
The study has generated new knowledge on genomic regions deserving further investigations in the search for genetic factors influencing vWF and FVIII plasma levels.
Supporting Evidence
- Ten SNPs were associated with plasma vWF levels at p < 10-5.
- Six SNPs were specifically associated with FVIII levels.
- Previously reported associations with vWF and FVIII levels were replicated.
Takeaway
Researchers looked at the genes that affect two important blood factors, vWF and FVIII, to find out why some people have higher levels, which can lead to health problems.
Methodology
The study combined results from three independent genome-wide association studies (GWAS) involving a total of 1,624 subjects to identify SNPs associated with vWF and FVIII levels.
Limitations
No SNP reached the genome-wide significance level, suggesting that additional common SNPs influencing vWF and FVIII levels may explain less than 2% of the variability.
Participant Demographics
Most participants were of French origin, with a mix of unrelated individuals and extended families ascertained through probands with idiopathic venous thrombosis.
Statistical Information
P-Value
P = 0.0056
Statistical Significance
p<10-5
Digital Object Identifier (DOI)
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