rs2228001, XPC

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE In the second part we selected 2 common single nucleotide polymorphisms within genes involved in NER (Xeroderma pigmentosum group C (XPC) Lys939Gln, Xeroderma pigmentosum group D (XPD) Lys751Gln) to determine the relation between them and CRC risk. 29793654 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE The relationships between XPC polymorphisms (Lys939Gln and Ala499Val) and the susceptibility to colorectal cancer (CRC) have been studied by several researchers, but the results were inconclusive. 26214629 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE This meta-analysis suggested that both the XPC Lys939Gln and Ala499Val polymorphisms were not risk factors for increasing colorectal cancer. 24385304 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE The XPC Lys939Gln polymorphism may play an important role in CRC development among Asians and nonsmokers. 24947936 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE Overall, Lys939Gln was significantly associated with an increased overall cancer risk (Gln/Gln vs. Lys/Lys: OR = 1.16, 95% CI = 1.07 - 1.25, p < 0.001; recessive model: OR = 1.14, 95% CI = 1.06 - 1.22, p < 0.001; dominant model: OR = 1.06, 95% CI = 1.01 - 1.11, p = 0.015 and Gln vs. Lys: OR = 1.07, 95% CI = 1.03 - 1.10, p < 0.001) and further stratifications showed an increased risk for bladder, lung and colorectal cancer, Asian populations and population-based studies. 23400628 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE In conclusion, the current data suggested that XPC Lys939Gln and XPG Asp1104His polymorphisms might contribute to the identification of patients with increased risk for CRC. 22213216 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE For Lys939Gln, the CC genotype was associated with a significantly increased risk of CRC (odds ratio (OR)=1.5; 95% confidence interval (CI)=1.0-2.2) compared with the AA genotype. 21104992 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms and the susceptibility to colorectal carcinoma with or without oxidative stress were evaluated. 20649433 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE We observed a statistically significant interaction between the XPC Lys939Gln polymorphism and consumption of red meat, with a 3.7-fold increase in colorectal cancer risk per 100g red meat intake per day among carriers of the homozygous variant, but virtually no effect of red meat intake among carriers of the wild type allele. 17363013 2007