Gene-Environment Interaction between Arg72Pro SNP and Selected Environmental Exposures among Brazilian Women Diagnosed with Benign Breast Disease

Document Type : Research Articles


1 National School of Public Health Sergio Arouca, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.

2 Fernandes Figueira National Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.


Background: Benign breast disease (BBD) is a factor strongly associated with breast cancer worldwide. Arg72Pro SNP association with breast cancer is controversial due to the suggestion that environmental factors are required to modulate such risk. There are no studies evaluating these environmental interactions of the aforementioned SNP within BBD. Aim: To determine the frequency of SNP Arg72Pro in a cohort of women diagnosed with BBD; and to investigate gene-environmental interactions with environmental factors. Results: The genotype frequency was 44.6% for Arg/Pro, 39.3% for Arg/Arg genotype, and 16.3% for Pro/Pro homozygote. Gene-environment interaction analysis shows that when Arg/Arg is considered as reference, there is an ORinteraction with Arg/Pro and fabric exposure (OR=1.90;95%CI:1.04,3.48), solvents (OR=2.21;95%CI:1.01,4.83) and chlorine, bleaches, disinfectants, and liquid wax exposure (OR=2.52;95%CI:1.07,5.91). Analysis with Pro/Pro genotype as the reference showed an interaction between alcohol consumption and recessive model (OR=1.58;95%CI:1.00,2.51). Gene-environmental interactions were observed too between exposure to hair dyes, straighteners or relaxers and Arg/Arg (OR=3.26;95%CI:1.21,8.82). Conclusion: The Arg/Pro genotype was the most frequent in the BBD cohort. When compared with the Arg/Arg genotype, the presence of Arg/Pro genotype and solvents, fabric and cleaning products exposure increased the risk of BBD. When compared with Pro/Pro genotype, there were interactions between recessive model with alcohol consumption and exposure to hair products on the risk of BBD.


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