The impact of ApE1 gene polymorphism on endometrial cancer in Iranian population


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Farhad Mashayekhi1,Zivar Salehi1,Ebrahim Mirzajani2
1University of Guilan, Rasht, Iran,2Cellular and Molecular Research Center, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran.



Endometrial carcinoma is the most common gynecologic malignancy in both developed and some developing countries. Defects in the DNA mismatch-repair system are identified in ∼25%-30% of endometrial carcinomas (ECs). It is a complex disease driven by abnormal genetic and epigenetic alterations, as well as environmental factors. DNA repair gene systems are one of the most important systems in human body and have a key role in protecting against gene mutations. Carriers of a mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly endometrial cancer. Human apurinic/apyriminic endonuclease 1 (ApE1) is a basic enzyme in the base excision repair (BER) pathway and is located on chromosome 14q11.2-q12, consists of five exons and four introns. In this study the association of -656T>G ApE1 gene polymorphism and the susceptibility to endometrial cancer in Iranian population was studied.


Samples were collected from 250 patients diagnosed with endometrial cancer and 240 control subjects, DNA was extracted from peripheral blood and genotyped by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP).


We observed a significant difference in genotype distributions of -656T>G ApE1 polymorphism between patients and controls. The results show that individuals with the variant TG genotypes had a significant decreased risk of endometrial cancer (OR= 0.55, 95% CI= 0.29 – 0.88, P= 0.008). We have also showed that there is a significant differences in the allelic frequency between two groups (P=0.004) and variant allele G decreased endometrial cancer risk.


The data suggest that TG genotype and G allele have protective effects against the progression of endometrial carcinoma. It is also suggested that the -656T>G ApE1 polymorphism is associated with decreased risk of endometrial cancer. Further research with larger sample size is needed to confirm the findings of our study.