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Chin J Physiol. 2020 Jan-Feb;63(1):43-49. doi: 10.4103/CJP.CJP_72_19.

The role of genotype/phenotype at apurinic/apyrimidinic endonuclease Rs1130409 in renal cell carcinoma.

Author information

1
Graduate Institute of Biomedical Sciences, China Medical University; Taichung Armed Forces General Hospital, Taichung; National Defense Medical Center, Taipei, Taiwan.
2
Graduate Institute of Biomedical Sciences, China Medical University; Terry Fox Cancer Research Laboratory, Translational Medicine Research Center, China Medical University Hospital, Taichung, Taiwan.
3
Department of Physiology, Chung Shan Medical University and Chung Shan Medical University Hospital, Taichung, Taiwan.
4
Terry Fox Cancer Research Laboratory, Translational Medicine Research Center, China Medical University Hospital, Taichung, Taiwan.
5
School of Pharmacy, China Medical University, Taichung, Taiwan.
6
Graduate Institute of Biomedical Sciences, China Medical University; Terry Fox Cancer Research Laboratory, Translational Medicine Research Center, China Medical University Hospital; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan.

Abstract

The DNA repair capacity plays a critical role in maintaining the genomic stability and gatekeeping for individual cancer risk. In this study, we aim at evaluation the role of the Asp148Glu (rs1130409) variant at apurinic/apyrimidinic endonuclease (APE) gene in renal cell carcinoma (RCC) risk and the contribution of different genotypes to its transcriptional mRNA levels. In the case-control study, 92 RCC patients and 580 cancer-free patients matched by age and gender were recruited. The apurinic/APE genotyping work was conducted with typical restriction fragment length polymorphism methodology after polymerase chain reaction. At the meanwhile, thirty renal tissue samples with variant genotypes were examined for their apurinic/APE mRNA and protein expressions by real-time quantitative reverse transcription method and Western blotting. The results showed that compared with the wild-type TT genotype, the people with TG and GG genotypes of apurinic/APE Asp148Glu had 0.88- and 1.09-fold risk of RCC, respectively. We have also examined the in vivo transcriptional (RNA) and translational (protein) levels with renal tissues of various apurinic/APE Asp148Glu genotypes, revealing that the apurinic/APE mRNA and protein were of similar levels among people of TT, TG, or GG genotypes. There was no joint gene-environment effect of apurinic/APE Asp148Glu genotype and smoking habit on RCC risk. The evidence indicated that apurinic/APE Asp148Glu genotypic variants did not alter its mRNA and protein expression among RCC patients. The genotype of apurinic/APE Asp148Glu may not serve as a proper predictive marker for RCC risk in Taiwan.

KEYWORDS:

Apurinic/apyrimidinic endonuclease; DNA repair; polymorphism; renal cell carcinoma

PMID:
32056986
DOI:
10.4103/CJP.CJP_72_19
[Indexed for MEDLINE]
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