title: [A case-control study on JWA promoter -76G-->C polymorphism and the susceptibility of bladder cancer].
abstract: OBJECTIVE
  This case-control study was aimed to detect the single nucleotide polymorphisms (SNPs) in JWA promoter region, to assess the effect of SNP on transcriptional activity, and to probe the relationship between SNP and the risk of bladder cancer.
  
  
  METHODS
  The design of one control per case was adopted. The JWA gene promoter region in 155 patients with bladder cancer and in 155 cancer-free controls was amplified by PCR-SSCP technique, and the SNP were confirmed by direct DNA sequencing. The recombinant plasmids of JWA promoter fragment which contain the SNP were constructed as CAT reporter gene and were transfected transiently into NIH 3T3 cells for disclosing whether SNP changes the transcriptional activity of the promoter.
  
  
  RESULTS
  A novel SNP -76 G-->C at promoter region of JWA gene was found. The frequencies of the C allele and GC genotype at JWA promoter -76G-->C in bladder cancer group (10.00% and 20.00% respectively) were significantly higher than those in control group (5.16% and 10.32% respectively) (P < 0.05). The transcriptional activity of -76GC allele genotype was significantly down-regulated as compared with that of -76GG allele genotype (P < 0.01). Multivariate logistic regression analysis revealed that JWA polymorphism at promoter -76G-->C is an independent novel risk factor for bladder cancer.
  
  
  CONCLUSIONS
  The JWA -76G-->C variant genotype may play an important role in transcription regulation of JWA gene and in the susceptibility to bladder cancer.
authors.affiliation: School of Public Health, Lanzhou University, Lanzhou, Gansu, P. R. China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
authors.forename: Chun-ping
authors.initials: CP
authors.lastname: Li
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.forename: Xing-jiang
authors.initials: XJ
authors.lastname: Cao
authors.forename: Ai-ping
authors.initials: AP
authors.lastname: Li
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Ke-hu
authors.initials: KH
authors.lastname: Yang
authors.forename: Li-xin
authors.initials: LX
authors.lastname: Qian
authors.forename: Qi-zhan
authors.initials: QZ
authors.lastname: Liu
authors.forename: Zhi-lan
authors.initials: ZL
authors.lastname: Li
authors.forename: Jian-wei
authors.initials: JW
authors.lastname: Zhou
mesh_terms: D000368:Aged; D000818:Animals; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins; D051379:Mice; D008875:Middle Aged; D041681:NIH 3T3 Cells; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014162:Transfection; D001749:Urinary Bladder Neoplasms / Q000235:genetics*
chemical_list: C484566:ARL6IP5 protein, human; D006360:Heat-Shock Proteins; D047908:Intracellular Signaling Peptides and Proteins; D026901:Membrane Transport Proteins