Pathway Analysis for Genome-Wide Association Study of Basal Cell Carcinoma of the Skin
2011

Pathway Analysis for Basal Cell Carcinoma Risk

Sample size: 7994 publication Evidence: moderate

Author Information

Author(s): Zhang Mingfeng, Liang Liming, Xu Mousheng, Qureshi Abrar A., Han Jiali

Primary Institution: Brigham and Women's Hospital, Harvard Medical School

Hypothesis

Can a pathway-based approach identify genetic pathways associated with basal cell carcinoma (BCC) risk?

Conclusion

The study identified four pathways associated with BCC risk, suggesting new insights into its etiology.

Supporting Evidence

  • The heparan sulfate biosynthesis pathway was significantly associated with BCC risk (p = 0.007).
  • The mCalpain pathway showed a significant association with BCC risk (p = 0.002).
  • The Rho cell motility signaling pathway was significantly associated with BCC risk (p = 0.011).
  • The nitric oxide pathway was significantly associated with BCC risk (p = 0.022).

Takeaway

Researchers looked at how certain groups of genes might be linked to skin cancer, and they found some important pathways that could help us understand why some people get it.

Methodology

The study involved a genome-wide association study (GWAS) with 1,797 BCC cases and 5,197 controls, analyzing SNPs and their association with BCC risk using pathway analysis.

Potential Biases

Potential bias from the case-control status of type 2 diabetes and coronary heart disease was considered.

Limitations

The study's pathway definitions may not comprehensively represent all functionally related genes, and the sample size may limit the robustness of the findings.

Participant Demographics

All participants were of European ancestry and lived in the United States.

Statistical Information

P-Value

0.002

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0022760

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