{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:02:40Z","timestamp":1791849760713,"version":"4.3.4"},"reference-count":80,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T00:00:00Z","timestamp":1672876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Acci\u00f3n de Dinamizaci\u00f3n del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalunya","award":["ADE 10\/00026"],"award-info":[{"award-number":["ADE 10\/00026"]}]},{"name":"Acci\u00f3n de Dinamizaci\u00f3n del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalunya","award":["2017-SGR 529"],"award-info":[{"award-number":["2017-SGR 529"]}]},{"name":"Acci\u00f3n de Dinamizaci\u00f3n del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalunya","award":["PI18\/01512"],"award-info":[{"award-number":["PI18\/01512"]}]},{"name":"Acci\u00f3n de Dinamizaci\u00f3n del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalunya","award":["001-P-001647"],"award-info":[{"award-number":["001-P-001647"]}]},{"name":"Ag\u00e8ncia de Gesti\u00f3 d\u2019Ajuts Universitaris i de Recerca (AGAUR","award":["ADE 10\/00026"],"award-info":[{"award-number":["ADE 10\/00026"]}]},{"name":"Ag\u00e8ncia de Gesti\u00f3 d\u2019Ajuts Universitaris i de Recerca (AGAUR","award":["2017-SGR 529"],"award-info":[{"award-number":["2017-SGR 529"]}]},{"name":"Ag\u00e8ncia de Gesti\u00f3 d\u2019Ajuts Universitaris i de Recerca (AGAUR","award":["PI18\/01512"],"award-info":[{"award-number":["PI18\/01512"]}]},{"name":"Ag\u00e8ncia de Gesti\u00f3 d\u2019Ajuts Universitaris i de Recerca (AGAUR","award":["001-P-001647"],"award-info":[{"award-number":["001-P-001647"]}]},{"name":"National Grant","award":["ADE 10\/00026"],"award-info":[{"award-number":["ADE 10\/00026"]}]},{"name":"National Grant","award":["2017-SGR 529"],"award-info":[{"award-number":["2017-SGR 529"]}]},{"name":"National Grant","award":["PI18\/01512"],"award-info":[{"award-number":["PI18\/01512"]}]},{"name":"National Grant","award":["001-P-001647"],"award-info":[{"award-number":["001-P-001647"]}]},{"name":"VEIS project","award":["ADE 10\/00026"],"award-info":[{"award-number":["ADE 10\/00026"]}]},{"name":"VEIS project","award":["2017-SGR 529"],"award-info":[{"award-number":["2017-SGR 529"]}]},{"name":"VEIS project","award":["PI18\/01512"],"award-info":[{"award-number":["PI18\/01512"]}]},{"name":"VEIS project","award":["001-P-001647"],"award-info":[{"award-number":["001-P-001647"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Human pigmentation has largely been associated with different disease prevalence among populations, but most of these studies are observational and inconclusive. Known to be genetically determined, pigmentary traits have largely been studied by Genome-Wide Association Study (GWAS), mostly in Caucasian ancestry cohorts from North Europe, identifying robustly, several loci involved in many of the pigmentary traits. Here, we conduct a detailed analysis by GWAS and Polygenic Risk Score (PRS) of 13 pigmentary-related traits in a South European cohort of Caucasian ancestry (n = 20,000). We observed fair phototype strongly associated with non-melanoma skin cancer and other dermatoses and confirmed by PRS-approach the shared genetic basis with skin and eye diseases, such as melanoma (OR = 0.95), non-melanoma skin cancer (OR = 0.93), basal cell carcinoma (OR = 0.97) and darker phototype with vitiligo (OR = 1.02), cataracts (OR = 1.04). Detailed genetic analyses revealed 37 risk loci associated with 10 out of 13 analyzed traits, and 16 genes significantly associated with at least two pigmentary traits. Some of them have been widely reported, such as MC1R, HERC2, OCA2, TYR, TYRP1, SLC45A2, and some novel candidate genes C1QTNF3, LINC02876, and C1QTNF3-AMACR have not been reported in the GWAS Catalog, with regulatory potential. These results highlight the importance of the assess phototype as a genetic proxy of skin functionality and disease when evaluating open mixed populations.<\/jats:p>","DOI":"10.3390\/genes14010149","type":"journal-article","created":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T01:48:19Z","timestamp":1672969699000},"page":"149","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6838-9479","authenticated-orcid":false,"given":"Xavier","family":"Farr\u00e9","sequence":"first","affiliation":[{"name":"Genomes for Life-GCAT Lab, Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7160-8529","authenticated-orcid":false,"given":"Natalia","family":"Blay","sequence":"additional","affiliation":[{"name":"Genomes for Life-GCAT Lab, Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Genomes for Life-GCAT Lab, Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Carreras","sequence":"additional","affiliation":[{"name":"Genomes for Life-GCAT Lab, Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Iraola-Guzm\u00e1n","sequence":"additional","affiliation":[{"name":"Genomes for Life-GCAT Lab, Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3579-6777","authenticated-orcid":false,"given":"Rafael","family":"de Cid","sequence":"additional","affiliation":[{"name":"Genomes for Life-GCAT Lab, Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1111\/j.1751-1097.2005.tb01532.x","article-title":"Comparison of structural and chemical properties of black and red human hair melanosomes","volume":"81","author":"Liu","year":"2005","journal-title":"Photochem. 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