Association of Wilms' tumor 1 gene single-nucleotide polymorphism rs16754 with colorectal cancer

Abstract

Abstract. Colorectal cancer (CRC) is one of the leading causes of cancer-related mortality worldwide. Our recent study demonstrated that the expression of Wilms' tumor 1 gene (WT1) is associated with surgical outcome in CRC patients. The present study aimed to investigate the genetic association of the single-nucleotide polymorphism rs16754 in the WT1 gene with the occurrence of CRC, using an age-matched case-control study design. In addition, the correlation between genotype and WT1 expression was investigated. Genomic DNA samples from 104 CRC cases, aged 15-65 years, and 208 healthy controls, were genotyped for rs16754 using the TaqMan genotyping method. The genotype distribution conformed to the Hardy-Weinberg equilibrium (P=0.80). The overall minor allele frequency (MAF) of rs16754 (allele A) was 0.33. The MAF among CRC cases was significantly higher compared with that in controls (0.39 vs. 0.31, respectively; P=0.03). The AA genotype was significantly associated with the disease (odds ratio = 2.51, 95% confidence interval: 1.24-5.07, P=0.01). Cases with the AA genotype exhibited a significantly poorer 3-year overall survival (60%), compared with those with the GG or GA genotypes (80%) (log-rank test, P<0.01). Reverse transcription quantitative polymerase chain reaction analysis demonstrated that the expression of WT1 in tumor tissues was higher compared with that in normal tissue; however, there were no significant differences in its expression among different genotypes. Therefore, rs16754 was found to be associated with the occurrence and prognosis of CRC in our subjects.

Impact of EFEMP1 on the survival outcome of biliary atresia in Thai infants

“…All methods were performed in accordance with the relevant guidelines of the ethical committee. Liver biopsy specimens acquired during hepatic portoenterostomies (HPEs, Kasai's operation) in Songklanagarind Hospital between 2003 and 2019 and stored in the Biological Banking System of the Translational Medicine Research Center, Prince of Songkla University 19 were used for nucleic acid extraction. Informed consent for the use of the tissue specimens was provided by a parent and/or legal guardian.…”