Open AccessThe role of genotype/phenotype at apurinic/apyrimidinic endonuclease Rs1130409 in renal cell carcinoma
Author(s) -
Cheng Hsi Liao,
Wen Shin Chang,
Jiuan Miaw Liao,
Hsi Chin Wu,
Te-Chun Shen,
Jai Sing Yang,
Fuu Jen Tsai,
Chia Wen Tsai,
Chih Chieh Yu,
Da Tian Bau
Publication year - 2020
Publication title -
chinese journal of physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.396
H-Index - 31
eISSN - 2666-0059
pISSN - 0304-4920
DOI - 10.4103/cjp.cjp_72_19
Subject(s) - ap site , endonuclease , phenotype , genotype , biology , gene , cancer research , microbiology and biotechnology , genetics
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.