Identification of sequence nucleotide polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for epithelial ovarian cancer

Objective: Single nucleotide polymorphisms (SNPs) and mutations in the D-Loop region of mitochondrial DNA have been long proposed to drive the pathogenesis and progression of human malignancies. We investigated the links between SNPs of D-Loop and epithelial ovarian cancer risk. Method: Mitochondrial DNA (mtDNA) of peripheral blood from 93 epithelial ovarian cancer patients and controls were examined for single nucleotide polymorphisms (SNPs) and mutations in the D-Loop region. Results: The 73A/G, 207G/A and 523C/del (p < 0.05), which indicated that the patients who carry these alleles were susceptible to epithelial ovarian cancer. Additional SNPs 254T/G, 259A/G, 275G/A, 366G/A, 411C/G, 414T/G, 418C/G, 441C/A, 476C/A, 524C/del, 530C/T were significantly associated with the tendency toward the increased risk for epithelial ovarian cancer. In contrast, the alleles 249A/del and 263A/G were correlated with the reduced risk of epithelial ovarian cancer. Conclusion: In conclusion, SNPs in the mtDNA D-loop were found to be risk markers for epithelial ovarian cancer.