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J Invest Dermatol. 2019 Nov 1. pii: S0022-202X(19)33378-0. doi: 10.1016/j.jid.2019.09.020. [Epub ahead of print]

Sex-stratified polygenic risk score identifies individuals at increased risk of basal cell carcinoma.

Author information

1
Department of Dermatology, Massachusetts General Hospital, Boston, MA; Department of Population Medicine, Harvard Pilgrim Healthcare Institute, Boston, MA. Electronic address: robertsmichellerene@gmail.com.
2
Department of Population Medicine, Harvard Pilgrim Healthcare Institute, Boston, MA. Electronic address: joanne_sordillo@harvardpilgrim.org.
3
Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA. Electronic address: pkraft@hsph.harvard.edu.
4
Department of Dermatology, Massachusetts General Hospital, Boston, MA; Department of Population Medicine, Harvard Pilgrim Healthcare Institute, Boston, MA. Electronic address: masgari@partners.org.

Abstract

The incidence of basal cell carcinoma (BCC) is higher among men than women. Susceptibility loci for BCC have been identified through genome-wide association studies (GWAS), and two previous studies have found polygenic risk scores (PRS) to be significantly associated with risk of BCC. However, to our knowledge, sex-stratified PRS analyses examining the genetic contribution to BCC risk among men and women have not been previously reported. To quantify the contribution of genetic variability on BCC risk by sex, we derived a polygenic risk score and estimated the genetic relative risk distribution for men and women. Using 29 published SNPs, we found that the estimated relative risk of BCC increases with higher percentiles of the polygenic risk score. For men, the estimated risk of BCC is twice the average population risk at the 88th percentile, while for women, this occurs at the 99th percentile. Our findings indicate that there is a significant impact of genetic variation on the risk of developing BCC, and that this impact may be greater for men than for women. Polygenic risk scores may be clinically useful tools for risk stratification, particularly in combination with other known risk factors for BCC development.

PMID:
31682843
DOI:
10.1016/j.jid.2019.09.020

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