rs2228001, XPC

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Azoospermia
CUI: C0004509
Disease: Azoospermia
0.010 GeneticVariation BEFREE The Ala499Val (C>T) and Lys939Gln (A>C) polymorphism of XPC gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism in three groups of infertile men (172 patients of azoospermia, 25 patients of severe oligozoospermia, 55 patients of oligozoospermia) and 228 fertile men. 18067564 2009
Bladder Neoplasm
CUI: C0005695
Disease: 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
Bladder Neoplasm
CUI: C0005695
Disease: 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
Bladder Neoplasm
CUI: C0005695
Disease: 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
Bladder Neoplasm
CUI: C0005695
Disease: 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
Bladder Neoplasm
CUI: C0005695
Disease: 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
Bladder Neoplasm
CUI: C0005695
Disease: 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
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 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
Bladder Neoplasm
CUI: C0005695
Disease: 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
Bladder Neoplasm
CUI: C0005695
Disease: 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Two polymorphisms (rs2228001 and rs50872) were associated with the risk of breast cancer with negative lymph node involvement. rs1800975 and rs50872 were associated with the risk of ER- and PR- breast cancer, whereas rs11615 was associated with the risk of ER+ and PR+ breast cancer. 27768589 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE We evaluated the association of two common non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) with breast cancer risk in the Long Island Breast Cancer Study Project (LIBCSP), a population-based case-control study. 18053706 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE The current data suggested that XPC Ala499Val and Lys939Gln polymorphisms may contribute to the identification of patients with increased risk for BC. 22519360 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. 18701435 2008
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. 26604426 2015
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 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 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
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 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 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 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