The Role of Genotype/Phenotype at Apurinic/Apyrimidinic Endonuclease Rs1130409 in Renal Cell Carcinoma

Cheng-Hsi Liao ； Wen-Shin Chang ； Jiuan-Miaw Liao ； Hsi-Chin Wu ； Te-Chun Shen ； Jai-Sing Yang ； Fuu-Jen Tsai ； Chia-Wen Tsai ； Chien-Chih Yu ； Da-Tian Bau

《The Chinese Journal of Physiology》 63卷1期 (2020/02) Pp. 43-49

https://doi.org/10.4103/CJP.CJP_72_19

摘要

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 Asp^(148)Glu (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 Asp^(148)Glu 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 Asp^(148)Glu 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 Asp^(148)Glu genotype and smoking habit on RCC risk. The evidence indicated that apurinic/APE Asp^(148)Glu genotypic variants did not alter its mRNA and protein expression among RCC patients. The genotype of apurinic/APE Asp^(148)Glu may not serve as a proper predictive marker for RCC risk in Taiwan.

關鍵字

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

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