TGFß1 rs1800469 and SMAD4 rs10502913 polymorphisms and genetic susceptibility to colorectal cancer in Bangladeshi population.

BACKGROUND: Among Bangladeshi males and females, colorectal cancer is the fourth and fifth most prevalent cancer, respectively. Several studies have shown that the transforming growth factor beta 1 (TGFß1) gene and SMAD4 gene have a great impact on colorectal cancer. OBJECTIVE: The present study aimed to investigate whether TGFß1 rs1800469 and SMAD4 rs10502913 genetic polymorphisms are associated with susceptibility to colorectal cancer in the Bangladeshi population. METHODS AND MATERIALS: This case-control study was performed on 167 colorectal cancer patients and 162 healthy volunteers, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was employed for genotyping. RESULTS: In case of SMAD4 rs10502913 G > A polymorphism, the A allele reduced the colorectal cancer risk significantly (adjusted OR 0.35, 95% CI 0.23-0.52, p < 0.001) when compared to the G allele. It was also found that G/A and A/A genotypes of SMAD4 rs10502913 G > A polymorphism reduced the risk of colorectal cancer in comparison to the G/G genotype (G/A vs. G/G: adjusted OR 0.24, 95% CI 0.12-0.45, p < 0.001 and A/A vs. G/G: adjusted OR 0.06, 95% CI 0.02-0.21, p < 0.001). TGFß1 rs1800469 C > T polymorphism showed an elevated risk of developing colorectal cancer, although the results were not statistically significant. CONCLUSION: This study confirms the association of SMAD4 rs10502913 gene polymorphism with colorectal cancer susceptibility among the Bangladeshi population.

The link of ERCC2 rs13181 and ERCC4 rs2276466 polymorphisms with breast cancer in the Bangladeshi population.

BACKGROUND: Breast cancer (BC) is the most common disease in women and the leading cause of death from cancer globally. Epidemiological studies examined that nucleotide excision repair genes ERCC2 (rs13181) and ERCC4 (rs2276466) SNPs might increase cancer risk. Based on the previous investigation, this study was conducted to explore the correlation between these polymorphisms and BC susceptibility in Bangladeshi women. METHODS AND RESULTS: Between January 2019 and January 2020, 140 blood samples were collected from female patients histologically diagnosed with BC, and 111 female controls were recruited from non-cancer subjects. Genotyping was performed applying the PCR-RFLP method, and all statistical analyzes were conducted using SPSS, version 25.0. Comparison of characteristics and clinicopathological features between ERCC2 rs13181 and ERCC4 rs2276466 carriers and non-carriers showed no significant link with BC. Analysis of ERCC2 rs13181 with the risk of BC showed that the GG genotype and G allele carriers showed a fourfold and 1.78-fold higher risk (OR 4.00, P = 0.001 and OR 1.78, P = 0.002) that are statistically significant. In addition, the patients with combined TG+GG genotype revealed a 2.09-fold increased chance (OR 2.09, P = 0.020) BC development. Analysis of recessive model (GG vs. TT+TG) also depicted 2.74-times significantly higher risk (OR 2.74, P = 0.002). On the other hand, ERCC4 rs2276466 polymorphism did not show any significant association with BC (P > 0.05). CONCLUSIONS: Our findings show that ERCC2 rs13181 is linked to an elevated risk of BC. Our study also shows that ERCC4 rs2276466 polymorphism has no substantial risk of BC in the Bangladeshi population.