MDR method reveals interaction among Bax and Bcl2 polymorphisms in breast cancer

ACOSTA, KARINA BEATRIZ; ESNARRIAGA, MS; ZAPATA, PEDRO DARÍO

Mar del Plata

Congreso; LI Congreso SAIB 2015; 2015

SAIB

BCL-2 family is a group of evolutionarily conserved proteins related to apoptosis which is subdivided into two main classes: proapoptotic like Bax and Bad, and anti-apoptotic like Bcl-2 and Bcl-xL. Association studies between Bcl-2 and Bax SNPs and cancer have provided new insights into the mechanisms of carcinogenic development. The diversity of physiological functions in which Bcl-2 and Bax are involved, suggest a high level regulation, therefore the analysis of its promoters is important to understand the function of proteins.The aim of this study was to estimate the combined effect of Bax and Bcl2 promoters SNPs (-248G>A and -398C>A, respectively) in the phenotype of breast cancer.A total of 82 breast carcinomas and 66 control samples from Posadas-Misiones were genotyped by RFLP-PCR. We used multifactor dimensionality reduction (MDR) method to improve the identification of polymorphism combination associated with breast cancer.The MDR method detected interaction between Bax and Bcl2 promoters SNPs and the risk of breast cancer (OR=8,47; IC 95% = 1,56 - 45,76; p=0,0089). For model interaction between Bax and Bcl2 promoters SNPs (-248G>A and -398C>A, respectively); the Testing Accuracy (TA) was 0.7415. Genotypes combinations for Bax and Bcl2 associated with breast cancer risk were: GG-CA y GA-CA (Bax-Bcl2).