Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil
Abstract 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 modulati...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-11-01
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| Series: | BMC Cancer |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12885-020-07485-x |
| _version_ | 1811292464812654592 |
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| author | Larissa B. Reis Renato M. Bakos Fernanda S. L. Vianna Gabriel S. Macedo Vanessa C. Jacovas André M. Ribeiro-dos-Santos Sidney Santos Lúcio Bakos Patricia Ashton-Prolla |
| author_facet | Larissa B. Reis Renato M. Bakos Fernanda S. L. Vianna Gabriel S. Macedo Vanessa C. Jacovas André M. Ribeiro-dos-Santos Sidney Santos Lúcio Bakos Patricia Ashton-Prolla |
| author_sort | Larissa B. Reis |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-13T04:46:47Z |
| format | Article |
| id | doaj.art-3126b9b528a5470591334d4b6ca6c196 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-04-13T04:46:47Z |
| publishDate | 2020-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-3126b9b528a5470591334d4b6ca6c1962022-12-22T03:01:50ZengBMCBMC Cancer1471-24072020-11-0120111110.1186/s12885-020-07485-xSkin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern BrazilLarissa B. Reis0Renato M. Bakos1Fernanda S. L. Vianna2Gabriel S. Macedo3Vanessa C. Jacovas4André M. Ribeiro-dos-Santos5Sidney Santos6Lúcio Bakos7Patricia Ashton-Prolla8Serviço de Pesquisa Experimental, Laboratório de Medicina Genômica, Hospital de Clínicas de Porto Alegre (HCPA)Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul (UFRGS)Serviço de Pesquisa Experimental, Laboratório de Medicina Genômica, Hospital de Clínicas de Porto Alegre (HCPA)Serviço de Pesquisa Experimental, Laboratório de Medicina Genômica, Hospital de Clínicas de Porto Alegre (HCPA)Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS)Laboratório de Genética Humana e Médica, Universidade Federal do Pará (UFPA)Laboratório de Genética Humana e Médica, Universidade Federal do Pará (UFPA)Serviço de Dermatologia, Hospital de Clínicas de Porto Alegre (HCPA)Serviço de Pesquisa Experimental, Laboratório de Medicina Genômica, Hospital de Clínicas de Porto Alegre (HCPA)Abstract 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.http://link.springer.com/article/10.1186/s12885-020-07485-xMelanomaSNPsPigmentation |
| spellingShingle | Larissa B. Reis Renato M. Bakos Fernanda S. L. Vianna Gabriel S. Macedo Vanessa C. Jacovas André M. Ribeiro-dos-Santos Sidney Santos Lúcio Bakos Patricia Ashton-Prolla Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil BMC Cancer Melanoma SNPs Pigmentation |
| title | Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil |
| title_full | Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil |
| title_fullStr | Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil |
| title_full_unstemmed | Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil |
| title_short | Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil |
| title_sort | skin pigmentation polymorphisms associated with increased risk of melanoma in a case control sample from southern brazil |
| topic | Melanoma SNPs Pigmentation |
| url | http://link.springer.com/article/10.1186/s12885-020-07485-x |
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