{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T14:35:33Z","timestamp":1777646133957,"version":"3.51.4"},"reference-count":48,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,7,25]],"date-time":"2018-07-25T00:00:00Z","timestamp":1532476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["GV\/2016\/156"],"award-info":[{"award-number":["GV\/2016\/156"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004834","name":"Universitat Jaume I","doi-asserted-by":"publisher","award":["UJI\u2010A2016\u201013"],"award-info":[{"award-number":["UJI\u2010A2016\u201013"]}],"id":[{"id":"10.13039\/501100004834","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Photoderm Photoimm Photomed"],"published-print":{"date-parts":[[2018,11]]},"abstract":"Summary<\/jats:title>Background\/Purpose<\/jats:title>Recent GWAS<\/jats:styled-content> studies, mostly performed in populations of North European origin, have identified the genetic loci associated with pigmentation, sun sensitivity, freckling and skin cancer susceptibility. Here, we aimed at addressing the genetic determinants of sunlight sensitivity in Spain, a southern European population.<\/jats:p><\/jats:sec>Methods<\/jats:title>Nine SNP<\/jats:styled-content>s located in 8 pigmentation\u2010related genes (IRF<\/jats:styled-content>4, TYR<\/jats:styled-content>, ASP<\/jats:styled-content>, HERC<\/jats:styled-content>2, OCA<\/jats:styled-content>2, BNC<\/jats:styled-content>2, SLC<\/jats:styled-content>24A4<\/jats:italic> and SLC<\/jats:styled-content>45A2<\/jats:italic>) were genotyped in 456 Spaniards. Additionally, the complete sequence of the MC<\/jats:styled-content>1R<\/jats:italic> gene was obtained, testing each nonsynonymous mutation supported by the classification as R or r alleles. A standardised questionnaire was used to collect demographic characteristics, pigmentation and sun sensitivity traits, as well as sun exposure habits.<\/jats:p><\/jats:sec>Results<\/jats:title>MC<\/jats:styled-content>1R<\/jats:italic> R alleles and IRF<\/jats:styled-content>4<\/jats:italic> rs12203592 were significantly associated with sunlight sensitivity at the Bonferroni\u2010corrected level (P<\/jats:italic>\u2010value < 4.54\u00a0\u00d7\u00a010\u22123<\/jats:sup>). Genetic variants in SLC<\/jats:styled-content>45A2<\/jats:italic> (rs16891982) and HERC<\/jats:styled-content>2<\/jats:italic> (rs12913832) were also found to be significantly associated with skin photosensitivity in our Spanish sample. Interaction analysis using the MDR<\/jats:styled-content> method revealed epistatic effects when these four variants were considered together.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>MC<\/jats:styled-content>1R<\/jats:italic>, IRF<\/jats:styled-content>4, HERC<\/jats:styled-content>2<\/jats:italic> and SLC<\/jats:styled-content>45A2<\/jats:italic> play a significant role in skin sensitivity to sunlight in the Spanish population. Moreover, interaction among these four loci seems to modulate the ability of the skin to respond to UV<\/jats:styled-content> radiation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/phpp.12412","type":"journal-article","created":{"date-parts":[[2018,7,5]],"date-time":"2018-07-05T08:17:38Z","timestamp":1530778658000},"page":"415-422","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genetic variants associated with skin photosensitivity in a southern European population from Spain"],"prefix":"10.1111","volume":"34","author":[{"given":"Barbara","family":"Hernando","sequence":"first","affiliation":[{"name":"Department of Medicine Jaume I University of Castellon Castellon Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Sanz\u2010Page","sequence":"additional","affiliation":[{"name":"Department of Medicine Jaume I University of Castellon Castellon 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