The Association Between MtDNA Polymorphisms And Endomentrial Cancer With Women Of Han Group In Kunming In Yunnan Province

Purpose: It is just in recent years that mitochondrial DNA mutations have been found in solid tumors. Although a direct link between the presence of the mtDNA mutation and the development of the tumor has not been made, the presence of the mtDNA mutation might be proved significantly in the detection of tumor recurrence and possibly in the detection of genotoxic damage. This research was to study whether mtDNA variation of 16189T/C lies within the highly polymorphic D-loop region of mtDNA (spanning np16024 to 576) have been reported to be associated with susceptibility to endometrial cancer contribute to endometrial cancer and two variations were associated with susceptibility to hypertention and diabetes are associated to endometrial cancer. Furthermore, we allocated all patients to the main East Asia haplogroups to investigate a possible relationship of endometrial cancer with a distinct mitochondrial line of descent.Methods: we collected blood samples from subjects with Han native background in Kunming of Yunnan province in China, 49 of them with pathologically conformed endometrial cancer and 31 of them as controls with no cancer disease and sequenced two hypervariable segments of control region, part of 16sRNA gene, tRNA^leu gene and ND1 gene of mtDNA and identified some diagnostic polymorphisms by restriction fragment length polymorphism of coding region of mtDNA.Result: The 3243A/G mutation in the tRNA^UUR gene, that is associated with Type 2 diabetes, has not been found in our samples. The frequency occurrence of 16223 C/T mutation, which have been reported to be a potential risk factors for hypertension in Japanese, has been found in 22 of the 49 (45%) endometrial cancer patients and 18 of the 31 (58%) control subjects, and the difference in the frequencies of the two groups showed statistic significance (X²=1．317, P=0．251) . The frequency of occurrence of the variant 16189T>C, which has been reported to be related to endometrial cancer in a previous report, was also not found to be significant different in both two groups (X²=0．708, P=0．400) . However, our data showed that the patients with endometrial cancers were clustered in haplogroup D in a significant higher frequency than controls, implicating a possible association of haplogroup D to endometrial cancer. We concluded that mitochondrial polymorphisms in haplogroup D might be played a genetic role in predisposing to the endometrial cancer.