Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population

Tovar-Parra, David et Gutiérrez-Castañeda, Luz Dary (2025). Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population International Journal of Molecular Sciences , vol. 26 , nº 10:4674. pp. 1-17. DOI: 10.3390/ijms26104674.

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Résumé

Melanoma incidence is increasing, with distinct genetic and clinical patterns observed in the Latin American population. This study aimed to evaluate melanoma risk in a Colombian cohort through polygenic risk analysis using 37 variants across nine genes previously associated with melanoma. We performed polygenic risk score (PRS) analysis on 85 melanoma patients and 165 controls. Genotyping was performed for 37 melanoma-associated SNPs, and on the basis of previous GWAS reports, individual PRSs were calculated for each participant. The participants were then stratified into quartiles to examine risk gradients. In addition, phenotypic features such as eye and hair color were evaluated, and genetic models and haplotype analyses were performed, adjusting for sex and family history of cancer. PRS quartile stratification revealed a clear risk gradient. Notably, 31.8% of the melanoma cases were clustered in the highest-risk quartile (Q4), with a maximum PRS of 1.04. Variants in TYR, TYRP1, CDKN2A, and HERC2 significantly contributed to risk, and light brown eye and hair colors were strongly associated with increased melanoma risk. Moreover, a protective haplotype in the OCA2-HERC2 region was identified among males. The integration of the PRS with clinical and phenotypic factors has potential for improving melanoma risk stratification in the Colombian population, warranting further investigation in larger, diverse cohorts.

Type de document:	Article
Mots-clés libres:	Melanoma; polygenic risk score; polymorphism
Centre:	Centre INRS-Institut Armand Frappier
Date de dépôt:	07 juill. 2025 19:07
Dernière modification:	07 juill. 2025 19:07
URI:	https://espace.inrs.ca/id/eprint/16531

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