Association of CXCL12 rs1801157 G/A single-nucleotide polymorphism with prevalence and risk of breast cancer in Bangladeshi women

Background: Breast cancer remains the most common cancer among women in Bangladesh. Chemokines play an important role in facilitating intracellular signaling after binding with CXCR4 to promote cell proliferation. CXCL12 plays a pivotal in different stages of tumor development and cancer metastasis. The case-control study assessed the impact of the single-nucleotide polymorphism (SNP) rs1801157 G/A in CXCL12/SDF1 gene in breast cancer patients. Objective: This study aimed to investigate the association of the single-nucleotide polymorphism (SNP) rs1801157 in CXCL12/SDF1 gene with the prevalence and risk of breast cancer among Bangladeshi women. We also aimed at finding correlation between pathophysiologic variables and polymorphic genotypes in breast cancer patients. Materials and Methods: The study included 130 breast cancer patients and 142 age matched healthy controls. Genomic DNA was isolated from venous blood collected from breast cancer patients and healthy controls. Genotyping was carried out by PCR‐RFLP (polymerase chain reaction followed by restriction fragment length polymorphism) using a restriction enzyme. Results: The frequencies of the wild type homozygous G/G, heterozygous G/A and variant homozygous A/A were 59%, 31%, and 10% in breast cancer cases whereas in controls were 56%, 38%, and 8%, respectively. The crude genotypic frequencies in breast cancer cases were almost similar to those of the controls. Compared with the homozygous G/G genotype of CXCL12, heterozygous G/A genotypes (OR= 0.7992, 95% CI=0.4784 to 1.3352, p=0.3921) and variant homozygous A/A genotypes (OR= 1.7105, 95% CI = 0.6715 to 4.3572, p=0.2605) were found not to be significantly associated breast cancer prevalence. The G and A content were 74% and 26% respectively for patients whereas it was 75% and 25% for control group, respectively. However, when compared with pathophysiologic characteristics, we found that variant genotypes increased the risk of breast cancer 11 times in non-breast-feeding individuals when compared to breast feeding individuals (X 2 = 11.4953; p =.00319). Conclusions: rs1801157 SNP may have impact on breast cancer risk among Bangladeshi females. However, Further studies with higher sample size are required to conclude the findings.