Knowledge-Driven Multi-Locus Analysis Reveals Gene-Gene Interactions Influencing HDL Cholesterol Level in Two Independent EMR-Linked Biobanks
2011

Gene-Gene Interactions Affecting HDL Cholesterol Levels

Sample size: 3740 publication 10 minutes Evidence: moderate

Author Information

Author(s): Stephen D. Turner, Richard L. Berg, James G. Linneman, Peggy L. Peissig, Dana C. Crawford, Joshua C. Denny, Dan M. Roden, Catherine A. McCarty, Marylyn D. Ritchie, Russell A. Wilke

Primary Institution: Vanderbilt University School of Medicine

Hypothesis

Can gene-gene interactions influence HDL cholesterol levels in individuals?

Conclusion

The study found that gene-gene interactions significantly modulate HDL cholesterol levels, with several interactions replicating across different cohorts.

Supporting Evidence

  • Gene-gene interactions were identified that modulate HDL cholesterol levels.
  • Several known associations between HDL cholesterol and genetic variants were replicated.
  • The study utilized a novel approach to phenotype HDL cholesterol levels by censoring data based on relevant co-morbidities.

Takeaway

This study looked at how different genes work together to affect cholesterol levels in our blood, finding that some combinations of genes can change how much good cholesterol we have.

Methodology

The study used genome-wide association studies (GWAS) to analyze HDL cholesterol levels in two biobanks linked to electronic medical records, focusing on both single-locus and gene-gene interaction analyses.

Potential Biases

Potential biases may arise from the reliance on electronic medical records and the specific populations studied.

Limitations

The findings explain only a small proportion of the variance in HDL cholesterol levels, indicating that many genetic factors remain unidentified.

Participant Demographics

The study included primarily European-American individuals, with a mean age of 72 years.

Statistical Information

P-Value

1.22e-25

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0019586

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