rs2228001, XPC

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE Meta-analyses corroborated the above results, showing strong association of Ala499Val (OR = 1.54, CI = 1.21-1.97, p = 0.001) but not that of Lys939Gln (OR = 1.13, CI = 0.95-1.34, p = 0.171) with urinary bladder cancer risk. 27246180 2016
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE Numerous studies have investigated the association between three polymorphisms (Lys939Gln, Ala499Val and PAT-/+) of Xeroderma pigmentosum group C (XPC) gene and bladder cancer susceptibility; however, the findings are inconclusive. 23918308 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). 23269608 2013
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE Our meta-analysis suggested that the XPC Lys939Gln polymorphism contributed to the risk of urinary bladder cancer. 23819639 2013
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE We investigated three polymorphisms of the XPC gene (PAT, Ala499Val and Lys939Gln) in 600 subjects with bladder cancer and in 609 healthy controls by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a Chinese Han population. 22505326 2012
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the maintenance of genetic stability (MMR: MLH1-93G>A; BER: XRCC1--77T>C and Arg399Gln; NER:XPC Lys939Gln and PAT +/-; DSBR:ATM G5557A and XRCC7 G6721T) in 302 incident bladder cancer cases and 311 hospital controls. 22927776 2012
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE In this work, we have conducted a case-control study in order to assess the effect of tobacco and three genetic polymorphisms in XPC, ERCC2 and ERCC5 genes (rs2228001, rs13181 and rs17655) in bladder cancer development in Tunisia. 21426550 2011
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE XPC Lys939Gln AC + CC genotype was significantly associated with risk in invasive stage of BC (p = 0.041, OR = 2.52). 19924443 2010
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. 20887739 2010
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE We analyzed the associations of the genotypes, haplotypes and diplotypes of three XPC polymorphisms, Ala499Val (C-->T), PAT (-/+) and Lys939Gln (A-->C), with the risk of bladder cancer. 17052994 2007
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE Using logistic regression adjusting for smoking, occupational and family history, neither the heterozygote nor the homozygote variants of these polymorphisms were associated with increased bladder cancer risk (adjusted odds ratio [95% confidence interval] for heterozygote 0.82 [0.63-1.07], 0.82 [0.63-1.08] and 0.83 [0.63-1.08] for PolyAT, IVS11-6 and Lys939Gln, respectively and homozygote variant, 0.98 [0.68-1.42], 0.99 [0.69-1.43] and 1.01 [0.70-1.46]). 15886698 2005