Male-Specific Association between a γ-Secretase Polymorphism and Premature Coronary Atherosclerosis
Author Information
Author(s): van Loo Karen M. J., Dejaegere Tim, van Zweeden Martine, van Schijndel Jessica E., Wijmenga Cisca, Trip Mieke D., Martens Gerard J. M.
Primary Institution: Radboud University Nijmegen
Hypothesis
The γ-secretase pathway may be associated with atherosclerosis.
Conclusion
The study concludes that disturbed γ-secretase signaling may play a role in the susceptibility for premature coronary atherosclerosis in males.
Supporting Evidence
- The study analyzed a cohort of 780 patients with premature coronary atherosclerosis and 1414 controls.
- Significant male-specific association was found with the APH1B Phe217Leu risk allele.
- Reduced γ-secretase activity was observed in the presence of the Phe217Leu mutation.
Takeaway
This study found that a specific gene variation is linked to heart disease, but only in men.
Methodology
The study tested for association of a SNP in the γ-secretase component APH1B with premature coronary atherosclerosis in a Dutch cohort.
Limitations
The study's findings may not be generalizable to other populations, and the female sample size was small.
Participant Demographics
Dutch Caucasian cohort, 780 cases and 1414 controls, with a focus on male participants.
Statistical Information
P-Value
0.033
Confidence Interval
1.04–2.58
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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