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Genetic variants associated with skin photosensitivity in a southern European population from Spain
Author(s) -
Hernando Barbara,
SanzPage Elena,
Pitarch Gerard,
Mahiques Laura,
ValcuendeCavero Francisca,
MartinezCadenas Conrado
Publication year - 2018
Publication title -
photodermatology, photoimmunology and photomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.736
H-Index - 60
eISSN - 1600-0781
pISSN - 0905-4383
DOI - 10.1111/phpp.12412
Subject(s) - nonsynonymous substitution , genetics , biology , allele , epistasis , population , sunlight , skin cancer , single nucleotide polymorphism , snp , gene , genotype , medicine , cancer , genome , physics , environmental health , astronomy
Summary 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 SNP s located in 8 pigmentation‐related genes ( IRF 4, TYR , ASP , HERC 2, OCA 2, BNC 2, SLC 24A4 and SLC 45A2 ) were genotyped in 456 Spaniards. Additionally, the complete sequence of the MC 1R 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. Results MC 1R R alleles and IRF 4 rs12203592 were significantly associated with sunlight sensitivity at the Bonferroni‐corrected level ( P ‐value < 4.54 × 10 −3 ). Genetic variants in SLC 45A2 (rs16891982) and HERC 2 (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 MC 1R , IRF 4, HERC 2 and SLC 45A2 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.