Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2228001
rs2228001
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228001
rs2228001
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). 23269608

2013

dbSNP: rs2228001
rs2228001
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228001
rs2228001
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228001
rs2228001
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228001
rs2228001
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE A significant association between Ala499Val polymorphism and bladder cancer was observed (OR = 1.78, CI = 1.19-2.66, p = 0.005); however, Lys939Gln was unrelated (OR = 0.97, CI = 0.65-1.45, P = 0.89). 27246180

2016

dbSNP: rs2228001
rs2228001
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE The aim of this meta-analysis is to generate large-scale evidence to determine the degree to which common Cyclin D1 (CCND1) G870A (dbSNP: rs603965) and xeroderma pigmentosum group C (XPC) Ala499Val (dbSNP: rs2228000) polymorphisms are associated with susceptibility to bladder cancer. 24264314

2014

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE Likewise, Ala499Val was also significantly associated with an increased overall cancer risk (Val/Val vs. Ala/Ala: OR = 1.21, 95% CI = 1.07 - 1.36, p = 0.003 and recessive model: OR = 1.20, 95% CI = 1.08 - 1.34, p = 0.001) and further stratification showed an increased risk for breast and bladder cancer, particularly in Asian populations. 23400628

2013

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE The results for Ala499Val showed a significant overall increase in cancer risk (OR 1.15; 95% CI: 1.02-1.31), and for bladder cancer in both the simple genetic model (Ala/Ala vs Val/Val) (OR 1.30; 95% CI: 1.04-1.61) and the recessive genetic model (Ala/Ala+Ala/Val vs Val/Val) (OR 1.32; 95% CI: 1.06-1.63). 18285822

2008

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val) were shown in a large pooled analysis to have an increased bladder cancer risk, and we found two 3'UTR variants, *611T > A and c.*618A > G, to be in strong linkage disequilibrium with c.1496T. 21689419

2011

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 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

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE Individuals homozygous for the minor allele of Ala(499)Val, Ex15-184, or Ex15-177 had an increased risk of bladder cancer compared with those homozygous for the common allele [adjusted odds ratio (95% confidence interval), 1.65 (1.05-2.59), 1.82 (1.12-2.97), and 1.82 (1.12-2.96), respectively]. 17164382

2006

dbSNP: rs2228000
rs2228000
XPC
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE A significant association between Ala499Val polymorphism and bladder cancer was observed (OR = 1.78, CI = 1.19-2.66, p = 0.005); however, Lys939Gln was unrelated (OR = 0.97, CI = 0.65-1.45, P = 0.89). 27246180

2016

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE In this study, it was hypothesized that MTHFR (C677T and A1298C) polymorphisms would be associated with bladder cancer and also with hypermethylation of the promoter of the Ras association domain family 1A (RASSF1A) gene. 20146887

2010

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE We hypothesized that the MTHFR C677T, A1298C, and MS A2756G polymorphisms are associated with risk of bladder cancer. 18815869

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE Assuming a very low prior probability of 0.000001, similar to a probability assumed for a randomly selected single-nucleotide polymorphism in a genome-wide association study, and statistical power to detect an OR of 1.5, 4 associations were considered noteworthy as denoted by an FPRP value <0.2: GSTM1 null and bladder cancer (OR, 1.5; 95% CI, 1.3-1.6; P = 1.9 x 10(-14)), NAT2 slow acetylator and bladder cancer (OR, 1.46; 95% CI, 1.26-1.68; P = 2.5 x 10(-7)), MTHFR C677T and gastric cancer (OR, 1.52; 95% CI, 1.31-1.77; P = 4.9 x 10(-8)), and GSTM1 null and acute leukemia (OR, 1.20; 95% CI, 1.14-1.25; P = 8.6 x 10(-15)). 18505952

2008

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE To clarify the role of MTHFR polymorphisms on bladder cancer risk, we genotyped MTHFR 677C > T and MTHFR 1298A > C in a population-based study of bladder cancer of 352 patients and 551 controls from New Hampshire, USA. 16217917

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE The MTHFR gene C677T and A1298C polymorphisms were associated with an increased risk of bladder cancer in our population (For the MTHFR gene C677T polymorphism and A1298C polymorphism; p=0.036<0.05; p=0.278>0.05 respectively). 22126575

2011

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE Quantitative assessment of the association between MHTFR C677T (rs1801133, Ala222Val) polymorphism and susceptibility to bladder cancer. 23773402

2013

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE The results from the current update analysis suggest that C677T and A1298C polymorphisms in the MTHFR gene are associated with bladder cancer risk and prognosis. 22296361

2011

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE Results from the current update analysis suggested that the C677T and A1298C polymorphisms in the MTHFR gene were associated with BC risk and disease progression. 23578207

2013

dbSNP: rs1217691063
rs1217691063
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 GeneticVariation BEFREE While the isolated polymorphism C677T did not appear to influence bladder cancer susceptibility, results suggest that it might act with an additive contribution determined by variation at MTHFR A1298C. 17574963

2007