Abstract
BackgroundCarbonic anhydrase 9 (CA9) is reportedly overexpressed in several types of carcinomas and is generally considered a marker of malignancy. The current study explored the effect of CA9 gene polymorphisms on the susceptibility of developing urothelial cell carcinoma (UCC) and the clinicopathological status.Methodology and Principal FindingsA total of 442 participants, including 221 healthy people and 221 patients with UCC, were recruited for this study. Four single-nucleotide polymorphisms (SNPs) of the CA9 gene were assessed by a real-time PCR with the TaqMan assay. After adjusting for other co-variants, the individuals carrying at least one A allele at CA9 rs1048638 had a 2.303-fold risk of developing UCC than did wild-type (CC) carriers. Furthermore, UCC patients who carried at least one A allele at rs1048638 had a higher invasive stage risk (p< 0.05) than did patients carrying the wild-type allele. Moreover, among the UCC patients with smoker, people with at least one A allele of CA9 polymorphisms (rs1048638) had a 4.75-fold (95% CI = 1.204–18.746) increased risk of invasive cancer.ConclusionThe rs1048638 polymorphic genotypes of CA9 might contribute to the prediction of susceptibility to and pathological development of UCC. This is the first study to provide insight into risk factors associated with CA9 variants in carcinogenesis of UCC in Taiwan.
Highlights
Urothelium covers the epithelial lining of the urinary tract from the renal calyces to the bladder
The rs1048638 polymorphic genotypes of Carbonic anhydrase 9 (CA9) might contribute to the prediction of susceptibility to and pathological development of urothelial cell carcinoma (UCC)
This is the first study to provide insight into risk factors associated with CA9 variants in carcinogenesis of UCC in Taiwan
Summary
Urothelium covers the epithelial lining of the urinary tract from the renal calyces to the bladder. The most frequent malignant tumor of urinary tract is urothelial cell carcinoma (UCC). UCC composed more than 90% of bladder cancer in both genders. Many articles emphasized the importance of genetic factors in the development of UCC [7,8,9,10]. Genetic variation affects the function of oncogene, tumor suppressor gene or metabolism of enzyme to induce cancer formation. Hypoxia is the common cause of tumor [11]. Hypoxia might be an important therapeutic target because it involved many different metabolic pathways in cancer growth. The current study explored the effect of CA9 gene polymorphisms on the susceptibility of developing urothelial cell carcinoma (UCC) and the clinicopathological status
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