Genotypic frequency of EGF +61A>G polymorphism and ancestry analysis associated with risk of cutaneous melanoma in a mixed population

• Grant number: 16/15387-6
• Support Opportunities: Scholarships in Brazil - Master
• Effective date (Start): March 01, 2017
• Effective date (End): September 30, 2018
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Acordo de Cooperação: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: Vinicius de Lima Vazquez
• Grantee: Bruna Aparecida Crivelari
• Host Institution: Hospital do Câncer de Barretos. Fundação Pio XII (FP). Barretos , SP, Brazil

Abstract

Cutaneous melanoma is a predominant type of skin cancer in white adults, which develops due alteration in melanocytes. In some studies the ancestrally of the subjects was associated with the risk for this disease as well as +61A>G (rs4444903) polymorphism EGF gene promoter region, although these findings are controversial in the literature. Another limitation of these studies is the use of self-reported ancestry, and for mixed populations such as Brazil, much of this information may be lost over the years and generations. Therefore, we propose to determine the proportion of ancestry and genotypic frequency of EGF +61A>G polymorphism at risk of developing melanoma Brazilian individuals. To this will be used a panel of 46 AIM-INDELs to define the proportion of ancestry and qRT-PCR to evaluate the genotypic frequency of this polymorphism in 500 patients with cutaneous melanoma, of which 178 will be retrospective and 322 prospective, and 500 healthy control subjects collected prospectively. Cases and controls will be matched for age, sex, skin type and sun exposure history. The mean proportions of ancestries patterns into the different groups will be assessed by non-parametric Mann-Whitney test and the stratification groups by dominant ancestry will be made in an exploratory fashion. The associations between defined extracts, the SNP frequency and clinical, demographic, histopathological and treatment characteristics will be made using the chi-square or Fisher's exact test. Survival curves will be calculated using the Kaplan Meier method and log-rank test will be performed to compare the curves. Statistical significance will be determined at a p value <0.05. (AU)