Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 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 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 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 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 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 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