Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study
Author Information
Author(s): Yang Qiong, Kathiresan Sekar, Lin Jing-Ping, Tofler Geoffrey H, O'Donnell Christopher J
Primary Institution: The National Heart, Lung and Blood Institute's Framingham Heart Study
Hypothesis
We sought to confirm known putative loci and identify novel loci that may influence either trait in genome-wide association and linkage analyses.
Conclusion
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII.
Supporting Evidence
- The lowest GEE p-value for hemostatic factors was p = 4.5*10-16 for factor VII at SNP rs561241.
- The highest linkage LOD score for hemostatic factors was 3.3 for factor VII on chromosome 10.
- Two SNPs (rs1582055, rs4897475) in EPB41L2 were associated with hematological phenotypes.
Takeaway
The study looked at genes that might affect blood clotting and blood cell traits in a large group of people, finding important genetic links.
Methodology
The study used genome-wide association and linkage analyses on blood samples from participants to measure various hemostatic factors and hematological phenotypes.
Potential Biases
Potential bias due to genotyping artifacts was addressed by limiting analyses to SNPs with specific quality criteria.
Limitations
The study participants were predominantly Caucasian, which may limit the generalizability of the results to other racial groups.
Participant Demographics
52% of participants were women, with a mean age of 52 years.
Statistical Information
P-Value
4.5*10-16
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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