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Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk
Joanne E Sordillo1, Peter Kraft2, Ann Chen Wu1
1Precision Medicine Translational Research Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA.
The Journal of Investigative Dermatology
|February 17, 2018
Summary
Genetic factors significantly influence cutaneous squamous cell carcinoma (cSCC) risk. This study quantifies that 62% of cSCC cases are attributable to known genetic variants, with men facing higher risks.
Area of Science:
- Genetics
- Dermatology
- Cancer Research
Background:
- Genetic predisposition is a key factor in cutaneous squamous cell carcinoma (cSCC) development.
- Previous genome-wide association studies identified 21 single nucleotide polymorphisms (SNPs) linked to cSCC risk.
- The cumulative heritability of cSCC risk has not been previously quantified using population attributable risk (PAR).
Purpose of the Study:
- To calculate the population attributable risk (PAR) of cSCC using 21 identified genetic variants.
- To assess the cumulative contribution of genetic factors to cSCC risk.
- To investigate the influence of sex on polygenic risk scores for cSCC.
Main Methods:
- Utilized an additive multi-locus linear logistic model.
- Calculated the multi-locus population attributable risk (PAR) based on 21 genetic regions.
- Performed stratified analysis to examine sex-specific differences in polygenic risk.
Main Results:
- A multi-locus PAR of 62% was computed for cSCC, indicating a substantial genetic contribution.
- Men exhibited an increased relative risk across the spectrum of the polygenic risk score compared to women.
- The identified genetic variants collectively explain a significant proportion of cSCC heritability.
Conclusions:
- Genetic predisposition significantly contributes to the overall burden of cutaneous squamous cell carcinoma.
- Understanding the genetic architecture of cSCC can inform public health strategies and research priorities.
- Sex-specific risk stratification based on genetic factors may be warranted for cSCC prevention and management.
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