Genetic variants associated with skin photosensitivity in a southern European population from Spain
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Other documents of the author: Hernando, Barbara; Sanz-Page, Elena; PITARCH BORT, GERARD; Mahiques, Laura; Valcuende-Cavero, Francisca; Martinez-Cadenas, Conrado
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comunitat-uji-handle2:10234/36080
comunitat-uji-handle3:10234/36082
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Title
Genetic variants associated with skin photosensitivity in a southern European population from SpainAuthor (s)
Date
2018Publisher
WileyISSN
0905-4383; 1600-0781Bibliographic citation
HERNANDO, Barbara, et al. Genetic variants associated with skin photosensitivity in a southern European population from Spain. Photodermatology, photoimmunology & photomedicine, 2018, vol. 34, no 6, p. 415-422.Type
info:eu-repo/semantics/articlePublisher version
https://onlinelibrary.wiley.com/doi/10.1111/phpp.12412Version
info:eu-repo/semantics/submittedVersionSubject
Abstract
Background/Purpose: Recent GWAS studies, mostly performed in populations of North European origin, have identified the genetic loci associated with pigmentation, sun sensitivity, freckling and skin cancer ... [+]
Background/Purpose: Recent GWAS 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.Methods: Nine SNPs located in 8 pigmentation- related genes (IRF4,TYR,ASP,HERC2,OCA2,BNC2,SLC24A4 and SLC45A2) were genotyped in 456 Spaniards. Additionally, the complete sequence of the MC1R gene was obtained, testing each nonsynony-mous mutation supported by the classification as R or r alleles. A standardised ques-tionnaire was used to collect demographic characteristics, pigmentation and sun sensitivity traits, as well as sun exposure habits.Results: MC1R R alleles and IRF4 rs12203592 were significantly associated with sun-light sensitivity at the Bonferroni-corrected level (P- value < 4.54 × 10−3). Genetic variants in SLC45A2 (rs16891982) and HERC2 (rs12913832) were also found to be significantly associated with skin photosensitivity in our Spanish sample. Interaction analysis using the MDR method revealed epistatic effects when these four variants were considered together.Conclusion: MC1R, IRF4,HERC2 and SLC45A2 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 radiation. [-]
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Photodermatol Photoimmunol Photomed. 2018;34Investigation project
GV/2016/156 ; UJI‐A2016‐13Rights
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
"This is the pre-peer reviewed version of the following article: HERNANDO, Barbara, et al. Genetic variants associated with skin photosensitivity in a southern European population from Spain. Photodermatology, photoimmunology & photomedicine, 2018, vol. 34, no 6, p. 415-422., which has been published in final form at https://doi.org/10.1111/phpp.12412. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions."
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