Genetic and functional association of FAM5C with myocardial infarction
2008

FAM5C and Myocardial Infarction

Sample size: 420 publication Evidence: moderate

Author Information

Author(s): Jessica J Connelly, Svati H Shah, Jennifer F Doss, Shera Gadson, Sarah Nelson, David R Crosslin, A Brent Hale, Xuemei Lou, Ty Wang, Carol Haynes, David Seo, David C Crossman, Vincent Mooser, Christopher B Granger, Christopher JH Jones, William E Kraus, Elizabeth R Hauser, Simon G Gregory

Primary Institution: Duke University Medical Center

Hypothesis

Polymorphisms within the FAM5C gene may alter FAM5C levels in smooth muscle cells, enhancing the atherosclerotic smooth muscle cell phenotype, thus leading to plaque instability.

Conclusion

FAM5C alleles are implicated in the risk of myocardial infarction, indicating a need for further functional studies.

Supporting Evidence

  • FAM5C polymorphisms were associated with myocardial infarction in two independent samples.
  • Expression levels of FAM5C decreased with increasing passage of proliferating aortic smooth muscle cells.
  • FAM5C genotypes correlated with expression of the gene in human aorta.

Takeaway

Scientists found a gene called FAM5C that might make people more likely to have heart attacks, and they want to study it more to understand how it works.

Methodology

A peak-wide association screen of 457 SNPs was conducted in a family-based early onset coronary artery disease sample.

Limitations

The study's power to detect distinct MI effects may be lower due to the inclusion of individuals with unstable angina.

Participant Demographics

{"age_of_onset":{"eoCAD":44.2,"ACS":43.9,"MI_cases":51.5,"controls":69.0},"race":{"Caucasian":"92.9%","African_American":"2.1%","American_Indian":"4.0%","Asian":"0.7%","Hispanic":"0.0%"},"sex":{"male":"70.6%"}}

Statistical Information

P-Value

0.027

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2350-9-33

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