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.


METHODS
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.


CONCLUSIONS
In conclusion, SNPs in the mtDNA D-loop were found to be risk markers for epithelial ovarian cancer.
a Department of Gynaecology and Obstetrics , The Second Hospital of Hebei Medical University , Shijiazhuang , P.R. China.
Shoujuan
S
Liu
a Department of Gynaecology and Obstetrics , The Second Hospital of Hebei Medical University , Shijiazhuang , P.R. China.
Shuhong
S
Shi
a Department of Gynaecology and Obstetrics , The Second Hospital of Hebei Medical University , Shijiazhuang , P.R. China.
Yanfang
Y
Li
a Department of Gynaecology and Obstetrics , The Second Hospital of Hebei Medical University , Shijiazhuang , P.R. China.
Desheng
D
Kong
D000483:Alleles; D001483:Base Sequence; D000077216:Carcinoma, Ovarian Epithelial; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000737:chemistry* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics*; D009690:Nucleic Acid Conformation; D010051:Ovarian Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
D004272:DNA, Mitochondrial
D-loop; SNPs; epithelial ovarian cancer; mtDNA; risk