Genetic variants associated with skin photosensitivity in a southern European population from Spain

Hernando, Bárbara; Sanz-Page, Elena; Pitarch, Gerard; Mahiques, Laura; Valcuende‐Cavero, Francisca; Martínez-Cadenas, Conrado

doi:10.1111/phpp.12412

Cited by 9 publications

(8 citation statements)

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“…The ancestral C allele appears to have a protective effect on skin sensitivity to the sun. (Hernando et al, 2018). Soejima et al described that in European populations the allele G is found at high frequency and the allele C at low frequency, the opposite happens in South Africa populations, the ancestral allele C is more recurrent and allele G appears at very low frequencies (Soejima & Koda, 2006).…”

Section: Discussionmentioning

confidence: 99%

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Souza

Bastos

Silva

et al. 2021

RSD

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The study of Externally Visible Characteristics (EVC) of pigmentation associated with SNPs (Single Nucleotide Polymorphisms) has become a target in the forensic field due to the possibility of phenotypically characterizing an individual. In Brazil, there are few data that shows the evaluation of some these markers, so further studies are necessary to understand better the pigmentation process related to genetic markers. The aim of this study was to test the association between 8 SNPs present in HIrisplex tool and EVC to provide a starting point for the development of prediction models for heterogeneous populations like the one in Pernambuco. Were evaluated 176 individuals by associations between self-reported eye, hair and skin color data and polymorphisms. Artificial intelligence tools were used for the prediction models. Significant associations were found between rs1800404 (OCA2), rs6058017 (ASIP), rs16891982 (SLC45A2) and rs1426654 (SLC24A5) with (EVC). The prediction models evaluated showed satisfactory prediction rates, rates above 60% for skin color and above 70% for eyes and hair. The associations found in our data show the importance of SNPs evaluation used in DNA Phenotyping, because of its ability to provide new information in the context of criminal investigations. Our data indicate that is possible to use molecular information to predict phenotypes in miscigenated populations, like the Brazilian population. These polymorphisms could be possible phenotypic predictors for the Pernambuco population.

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Section: Discussionmentioning

confidence: 99%

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Souza

Bastos

Silva

et al. 2021

RSD

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“…These findings are aligned with the theory of vitamin D synthesis. Which proposes that light skin is a feature selected to compensate for the lower solar incidence in populations living far from the Equator [ 42 ] and with increased ability of the skin to respond to ultra violet (UV) radiation [ 43 ].…”

Section: Discussionmentioning

confidence: 99%

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil

et al. 2020

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Background Melanoma is the most aggressive type of skin cancer and is associated with environmental and genetic risk factors. It originates in melanocytes, the pigment-producing cells. Single nucleotide polymorphisms (SNPs) in pigmentation genes have been described in melanoma risk modulation, but knowledge in the field is still limited. Methods In a case-control approach (107 cases and 119 controls), we investigated the effect of four pigmentation gene SNPs (TYR rs1126809, HERC2 rs1129038, SLC24A5 rs1426654, and SLC45A2 rs16891982) on melanoma risk in individuals from southern Brazil using a multivariate logistic regression model and multifactor dimensionality reduction (MDR) analysis. Results Two SNPs were associated with an increased risk of melanoma in a dominant model: rs1129038AA and rs1426654AA [OR = 2.094 (95% CI: 1.106–3.966), P = 2.3 10− 2 and OR = 7.126 (95% CI: 1.873–27.110), P = 4.0 10− 3, respectively]. SNP rs16891982CC was associated with a lower risk to melanoma development in a log-additive model when the allele C was inherited [OR = 0.081 (95% CI: 0.008–0.782), P = 3 10− 2]. In addition, MDR analysis showed that the combination of the rs1426654AA and rs16891982GG genotypes was associated with a higher risk for melanoma (P = 3 10− 3), with a redundant effect. Conclusions These results contribute to the current knowledge and indicate that epistatic interaction of these SNPs, with an additive or correlational effect, may be involved in modulating the risk of melanoma in individuals from a geographic region with a high incidence of the disease.

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“…Moreover α-MSH/MC1R signaling is a potent anti-inflammatory pathway and has been shown to promote anti-melanoma immunity (27). Human MC1R genetics variants are associated with sunlight sensitivity (28), and altered expression of MC1R have been associated with red hair and skin cancer risk (29).…”

Section: Discussionmentioning

confidence: 99%

Expression of melanocortin 1 receptor before and after narrowband UVB phototherapy treatment in patients with stable vitiligo: A prospective study

Ocampo‐Garza¹,

Salinas-Santander

Welsh³

et al. 2020

Exp Ther Med

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Vitiligo is a disease characterized by skin depigmentation caused by the selective destruction of melanocytes. The melanocortin system participates as a regulator of melanogenesis and skin pigmentation. Narrowband UVB phototherapy (nb-UVB) is currently considered to be the gold standard and first choice treatment method for vitiligo vulgaris. The aim of the present study was to analyze the clinical and biochemical parameters of vitiligo, as well as to determine the expression of proopiomelanocortin (POMC), melanocortin 1 receptor (MC1R) and melanocortin 4 receptor (MC4R) genes in the skin of patients with stable vitiligo receiving nb-UVB phototherapy. Patient clinical and biochemical parameters, and the skin biopsies of 22 patients with stable vitiligo were analyzed. These biopsies were obtained before and after nb-UVB phototherapy. The genetic expression analysis of POMC, MC1R and MC4R genes was performed via RNA-Sequence analysis. A statistical evaluation of the clinical and biochemical parameters, the degree of response to treatment and the expression profiles of the melanocortin system genes were performed to identify their association with treatment response. A two-sided P≤0.05 value was considered to indicate a statistically significant difference. Alterations were observed in the expression profiles of MC1R following nb-UVB phototherapy (P≤0.05). In addition, elevated levels of triiodothyronine were associated with a poor response to nb-UVB phototherapy. In conclusion the current study revealed that nb-UVB phototherapy altered the expression profile of the MC1R gene.

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Genetic variants associated with skin photosensitivity in a southern European population from Spain

Abstract: 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.

Cited by 9 publications

References 50 publications

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil

Expression of melanocortin 1 receptor before and after narrowband UVB phototherapy treatment in patients with stable vitiligo: A prospective study

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