rs13181
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|
Acute leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: a systematic review and meta-analysis.
|
24486506 |
2014 |
rs13181
|
|
Acute lymphocytic leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esophageal cancer [for Lys/Gln versus Lys/Lys: odds ratio (OR), 1.34; 95% confidence interval (95% CI), 1.10-1.64; for Gln/Gln versus Lys/Lys: OR, 1.61; 95% CI, 1.16-2.25] and acute lymphoblastic leukemia (for Gln/Gln versus Lys/Lys: OR, 1.83; 95% CI, 1.21-2.75) are revealed.
|
18349268 |
2008 |
rs13181
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|
Acute monocytic leukemia
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|
0.020 |
GeneticVariation
|
BEFREE |
XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients.
|
24284041 |
2014 |
rs13181
|
|
Acute monocytic leukemia
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0.020 |
GeneticVariation
|
BEFREE |
We hypothesized that XPD Lys751Gln polymorphism may play a role in causation of AML in children and, as shown in adults, may affect the outcome of childhood AML therapy.
|
16150943 |
2006 |
rs13181
|
|
Adenocarcinoma Of Esophagus
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|
0.030 |
GeneticVariation
|
BEFREE |
Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66).
|
15878910 |
2005 |
rs13181
|
|
Adenocarcinoma Of Esophagus
|
|
0.030 |
GeneticVariation
|
BEFREE |
Variant alleles in NER SNPs XPD Lys751Gln (AOR = 1.50, 95% CI 1.1-2.0), ERCC1 8092 C/A (AOR = 1.44, 95% CI 1.1-1.9), and ERCC1 118C/T (AOR = 1.42, 95% CI 1.0-1.9) were individually associated with esophageal adenocarcinoma risk.
|
18478337 |
2008 |
rs13181
|
|
Adenocarcinoma Of Esophagus
|
|
0.030 |
GeneticVariation
|
BEFREE |
XPD codon 751 Lys/Gln and Gln/Gln genotypes, compared with Lys/Lys genotype, were both associated with a more than doubled risk for esophageal adenocarcinoma (OR=2.4; 95% CI=1.4-4.4; OR=2.7, 95% CI=1.3-5.9).
|
16571649 |
2006 |
rs13181
|
|
Adenoma of large intestine
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|
0.010 |
GeneticVariation
|
BEFREE |
We used a case-control study design (157 carcinomas, 983 adenomas and 399 controls) to test the association between five polymorphisms in these DNA repair genes (XRCC1 Arg194Trp, Arg280His, Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln), and risk of colorectal adenomas and carcinomas in a Norwegian cohort.
|
16542436 |
2006 |
rs13181
|
|
Adenomatous Polyps
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|
0.010 |
GeneticVariation
|
BEFREE |
In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperplastic polyps (n = 191), or both types of polyps (n = 119) versus polyp-free controls (n = 601), we investigated the role of polymorphisms in the DNA repair genes O(6)-methylguanine methyltransferase (MGMT; p.L84F and p.I143V), XPD (p.D312N and p.K751Q), and XPG (p.D1104H).
|
16284370 |
2005 |
rs13181
|
|
Adult Diffuse Large B-Cell Lymphoma
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|
0.010 |
GeneticVariation
|
BEFREE |
A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymphoma and ERCC2 (rs13181; P = 0.002) for diffuse large B-cell lymphoma.
|
23619945 |
2013 |
rs13181
|
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Adult Glioblastoma
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|
0.010 |
GeneticVariation
|
BEFREE |
These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute glioblastoma susceptibility factors, and also suggested that the chromosomal region 19q could be important in glioblastoma pathogenesis.
|
24325908 |
2014 |
rs13181
|
|
Adult Lymphoma
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|
0.010 |
GeneticVariation
|
BEFREE |
To investigate the relationship between DNA repair and NHL we analysed polymorphisms in XPD (R156R, D312N, K751Q) using DNA collected in a UK population-based case-control study of lymphoma.
|
19736055 |
2009 |
rs13181
|
|
Adult Non-Hodgkin Lymphoma
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|
0.020 |
GeneticVariation
|
BEFREE |
Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin's lymphoma: evidence from a meta-analysis.
|
25962431 |
2015 |
rs13181
|
|
Adult Non-Hodgkin Lymphoma
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|
0.020 |
GeneticVariation
|
BEFREE |
Comprehensive assessment of associations between ERCC2 Lys751Gln/Asp312Asn polymorphisms and risk of non- Hodgkin lymphoma.
|
25422223 |
2014 |
rs13181
|
|
Age-related cataract
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|
0.010 |
GeneticVariation
|
BEFREE |
The association of XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms with age-related cataract susceptibility observed in our meta-analyses supports the view that XRCC1 and XPD may play important roles in susceptibility to age-related cataract.
|
25873778 |
2015 |
rs13181
|
|
AIDS related complex
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our meta-analysis suggested that the CC genotype of XPD Lys751Gln (A/C) SNP seemed to portend a decreased risk for ARC in Caucasian populations but not in Asian populations.
|
24906341 |
2014 |
rs13181
|
|
AIDS related complex
|
|
0.020 |
GeneticVariation
|
BEFREE |
The aim of this study was to find out a correlation, if any, between ARC and the single nucleotide polymorphisms (SNPs) in DNA repair genes XRCC1 (X-ray repair cross-complementary-1) [Arg194Trp (rs1799782)] and XPD (xerodermapigmentosa complementation group D) [Lys751Gln (rs13,181].
|
28560653 |
2018 |
rs13181
|
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Alopecia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV).
|
30914949 |
2019 |
rs13181
|
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Azoospermia
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|
0.010 |
GeneticVariation
|
BEFREE |
This study was designed to examine whether ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A) and ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C), which have been reported to contribute to some cancers, are associated with idiopathic azoospermia in the Chinese population.
|
18616887 |
2008 |
rs13181
|
|
Barrett Esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66).
|
15878910 |
2005 |
rs13181
|
|
Bladder Neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
This meta-analysis suggested that the XPD Asp312Asn but not Lys751Gln polymorphism may be more genetically susceptible to bladder cancer development.
|
19492231 |
2009 |
rs13181
|
|
Bladder Neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
The current meta-analysis indicated that the Lys751Gln polymorphism in the XPD gene might be a risk factor for bladder cancer.
|
24535265 |
2014 |
rs13181
|
|
Bladder Neoplasm
|
|
0.080 |
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 |
rs13181
|
|
Bladder Neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
We found the Lys751Gln was associated with increased bladder cancer risk only under the recessive model (OR = 1.14, 95% CI = 1.01-1.29).
|
24347488 |
2014 |
rs13181
|
|
Bladder Neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
For ERCC2 Lys751Gln, individuals who carried the variant heterozygote Lys/Gln or homozygote Gln/Gln had a significantly increased bladder cancer risk, compared with the wild genotype Lys/Lys (OR=1.10, 95 % CI=1.03-1.18).
|
24504678 |
2014 |