|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RLFP) analyses was used to determine the genotypes of the XPCC1 (rs25487), XPD (rs13181) and ERCC1 (rs11615) genes.
|
26918371 |
2016 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
The summary odds ratio (OR) and corresponding confidence interval (CI) for XPD Lys751Gln and XRCC1 Arg399Gln polymorphisms and risk of age-related cataract were estimated by random and fixed-effects models.
|
25285569 |
2015 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Haplotypes association showed that association of Gln allele of XRCC1 Arg399Gln polymorphism with the Asn allele of XPDAsp312Asn polymorphism (p = 0.004) or Gln allele of XRCC1 Arg399Gln polymorphism with the Gln allele of XPD Lys751Gln polymorphism (p = 0.003) was highly significantly associated with the development of ESRD.
|
25310768 |
2015 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the present study, we investigated the polymorphisms of the following selected members of the base and nucleotide excision repair genes: XPC (Lys939Gln), XPD (Lys751Gln), XRCC1(Arg399Gln), and hOGG1(Ser326Ser), and the risk they present toward the development of lung cancer, with emphasis on the effect of chromium exposure.
|
25300687 |
2015 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Specifically, 2 polymorphisms-an arginine-to-glutamine substitution at codon 399 (Q399R) in XRCC1 and a lysine-to-glutamine substitution at codon 751 (K751Q) in XPD-were associated with increased toxicity to 5-FU/RT (P < .05), and an arginine-to-proline substitution at codon 72 (R72P) in TP53 was associated with increased toxicity to mFOLFOX-6 (P = .008).
|
23096768 |
2013 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
It was found that combination of the Arg/Gln or Gln/Gln genotypes of XRCC1 Arg399Gln polymorphism with the two possible genotypes of XPD-Asp312Asn or with the Lys/Gln or Gln/Gln genotypes of XPD Lys751Gln was significantly associated with the development of ESRD.
|
22302399 |
2012 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present study was designed to determine the association of polymorphisms of the DNA repair genes X-ray cross-complementing group 1 (XRCC1) (c.1316G>A [rs25487]) and xeroderma pigmentosum complementation group D (XPD) (c.2298A>C [rs13181]) with primary open-angle glaucoma (POAG) and primary closed-angle glaucoma (PCAG).
|
21617750 |
2011 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G>C single nucleotide polymorphism [SNP], 3R G>C SNP), epidermal growth factor receptor (Arg497Lys), GSTP1 (Ile105val), excision repair cross-complementing 1 (Asn118Asn, 8092C>A, 19716G>C), X-ray repair cross-complementing group 1 (XRCC1) (Arg194Trp, Arg280His, Arg399Gln), and xeroderma pigmentosum group D (Lys751Gln).
|
21570215 |
2011 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
When the genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln) genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 (VNTR in intron 3 and G-1394T) polymorphisms.
|
22183071 |
2011 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) polymorphisms in familial and sporadic breast cancer predisposition and survival: an Indian report.
|
19051060 |
2009 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
In a population-based case-control study, we examined associations of the hOGG1 Ser 326 Cys, XRCC1 Arg 399 Gln, and XPD Lys 751 Gln polymorphisms with risk of esophageal adenocarcinoma, Barrett's esophagus, and reflux esophagitis.
|
18349297 |
2008 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
For the single nucleotide polymorphisms in XRCC1 exon 10 (Arg399Gln, G/A) and XPD exon 23 (Lys751Gln, A/C), no remarkable differences for genotype distribution and allele frequencies were observed between BC group and control group in the study.
|
18415712 |
2008 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
To investigate whether polymorphisms in DNA repair genes, X-ray repair cross-complementing group 1 (XRCC1) and xeroderma pigmentosum group D (XPD), alone or in combination, are associated with the risk of developing idiopathic azoospermia, the genotype and allele frequencies of three observed polymorphisms (XRCC1 Arg194Trp and Arg399Gln, and XPD Lys751Gln) were examined by polymerase chain reaction-restriction fragment length polymorphism based on a Chinese population consisting of 171 idiopathic azoospermia patients and 247 normal-spermatogenesis fertile controls.
|
17912469 |
2007 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
We genotyped polymorphisms of X-ray repair cross-complimenting group 1 (XRCC1) codon 194 (Arg to Trp), 280 (Arg to His) and 399 (Arg to Gln), and xeroderma pigmentosum group D (XPD) codon 312 (Asp to Asn) and 715 (Lys to Gln) in 108 children with ALL and 317 healthy controls using PCR-RFLP method.
|
16435384 |
2007 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
By using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), we analysed XRCC1-Arg399Gln and XPD-Lys751Gln polymorphisms in 195 patients with cataract (75 patients with cortical, 53 with nuclear, 37 with posterior subcapsular, and 30 with mixed type) and in 194 otherwise healthy control group of similar age.
|
17637462 |
2007 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
We used polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), to analyze XRCC1-Arg399Gln and XPD -Lys751Gln polymorphisms in 144 patients with POAG and in 121 disease-free controls, who were of a similar age.
|
17242676 |
2007 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although no significant relationships were found for the XRCC1 Arg399Gln polymorphism alone, this polymorphism did modify the relationship between XPD Lys751Gln and EA risk; when both polymorphisms were evaluated together, adding the number of variant alleles of the two polymorphisms resulted in a significant trend (trend test, P = 0.008); compared with individuals with no variant alleles (n = 88), the adjusted ORs of developing EA are 1.49 (95% CI: 0.88-2.59), 1.69 (95% CI: 0.98-2.96) and 2.58 (95% CI: 1.31-5.06) for one (n = 195), two (n = 166) and three or four variant alleles (n = 70), respectively.
|
17264068 |
2007 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G>A), ERCC2/XPD (Lys751Gln) and ERCC5/XPD (His46His); the BER genes APE1/APEX (Ile64Val), OGG1 (Ser326Cys), PCNA (1876A>G) and XRCC1 (Arg194Trp, Arg280His, Arg399Gln); and the DSB-R genes ATR (Thr211Met), NBS1 (Glu185Gln), XRCC2 (Arg188His) and XRCC9 (Thr297Ile) modulate NSCLC risk.
|
16195237 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer.
|
16319991 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
Pooling data and DNA specimens from three case-control studies in western Washington State, North Carolina, and Puerto Rico, totaling 555 cases (430 whites) and 792 controls (695 whites), we studied the risk of head and neck cancer in relation to common nonsynonymous single-nucleotide polymorphisms in four DNA repair genes: MGMT (Leu84Phe and Ile143Val), XRCC1 (Arg399Gln), XPD (Lys751Gln), and XRCC3 (Thr241Met).
|
16030112 |
2005 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
In a subgroup of 32 nonsmokers and 31 smokers we also studied polymorphisms in XPD (Lys751Gln), XRCC1 (Arg399Gln) and XRCC3 (Thr241Val) because they are part of DNA repair pathways involved in the repair of tobacco-related DNA damage.
|
16037119 |
2005 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glutathione S-transferase superfamily (GSTM1 and GSTT1), x-ray repair cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-Thr241Met, XPD-Lys751Gln).
|
15459223 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine whether the XRCC1 (codon Arg399Gln) and XPD (codon Asp312Asn and codon Lys751Gln) polymorphisms are associated with prostate cancer susceptibility, we genotyped these polymorphisms in a primarily Caucasian sample of 506 sibships (n = 1,117) ascertained through a brother with prostate cancer.
|
14744728 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.100 |
GeneticVariation
|
BEFREE |
We used polymerase chain reaction-restriction fragment length polymorphism to evaluate genetic polymorphisms of the XPD (Asp312Asn) and XRCC1 (Arg399Gln) DNA repair genes in 103 patients with stage III (54%) and IV (46%) NSCLC treated with platinum-based chemotherapy.
|
15173214 |
2004 |