title: Impacts of CA9 gene polymorphisms on urothelial cell carcinoma susceptibility and clinicopathologic characteristics in Taiwan.
abstract: BACKGROUND
  Carbonic 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.
  
  
  RESULTS
  A 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.
  
  
  CONCLUSIONS
  The 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.
authors.affiliation: Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan ; Division of Urology, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Shian-Shiang
authors.initials: SS
authors.lastname: Wang
authors.affiliation: Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan.
authors.forename: Yu-Fan
authors.initials: YF
authors.lastname: Liu
authors.affiliation: Division of Urology, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Yen-Chuan
authors.initials: YC
authors.lastname: Ou
authors.affiliation: Division of Urology, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Chuan-Shu
authors.initials: CS
authors.lastname: Chen
authors.affiliation: Division of Urology, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Jian-Ri
authors.initials: JR
authors.lastname: Li
authors.affiliation: Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan ; Department of Medical Research, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Shun-Fa
authors.initials: SF
authors.lastname: Yang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000951:Antigens, Neoplasm / Q000235:genetics*; D000071231:Carbonic Anhydrase IX; D002256:Carbonic Anhydrases / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D011110:Polymorphism, Genetic; D012307:Risk Factors; D014571:Urologic Neoplasms / Q000235:genetics* / Q000473:pathology*
chemical_list: D000951:Antigens, Neoplasm; C089226:CA9 protein, human; D000071231:Carbonic Anhydrase IX; D002256:Carbonic Anhydrases