Pon1 and Sult1a1 Polymorphisms and Breast Cancer Among Young Women in Brazil.

Purpose: To investigate the association of genetic polymorphisms Gln192Arg and Leu55Met of Paraoxonase 1 (PON1) gene, and Arg213His of Sulfotransferase 1A1 (SUT1A1) gene with occurrence of breast cancer among young women living in Rio de Janeiro city. Methods: This is a hospital-based case-control study including 265 women aged 18-35 years, diagnosed with breast cancer at National Cancer Institute; and 277 controls in the same age group selected among women patients and companions of three general hospitals from Rio de Janeiro public health network. Polymorphisms genotyping was performed using the PCR-RFLP technique. Results: For PON1 gene, breast cancer women had a greater chance of being homozygote for Leu55Met polymorphism (ORadjusted = 1.42, 95% CI= 0.67-3.00, recessive model) and a lower chance of having at least one allele of Gln192Arg polymorphism (ORadjusted = 0.75, 95% CI = 0.50-1.13, dominant model), but without statistical significance. Accordingly, frequency of the haplotype Met55/Arg192 was lower among breast cancer women, but no statistically significant association was observed (ORadjusted = 0.85; 95% CI = 0.48-1.51). SULT1A1 His/His genotype was significantly associated with a protective effect for breast cancer (OR adjusted = 0.51, 95% CI = 0.28-0.91, recessive model). Conclusion: Arg213His polymorphism of SUT1A1 gene showed a protective effect against breast cancer among Brazilian young women. More studies with different designs are needed to understand the role of PON1 and SULT1A1 polymorphisms in breast cancer development in young Brazilian women.

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

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.