Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
0.010 GeneticVariation BEFREE In this case-control study of 144 OPL patients and 288 controls, we genotyped 11 polymorphisms in 8 major NER genes, including XPA [A23G at 5' untranslated region (UTR)], XPD (Asp312Asn, Lys751Gln), XPC (Ala499Val, Lys939Gln), XPG (His1104Asp), XPF (Pro662Ser), ERCC6 (Met1097Val, Arg1230Pro) Rad23B (Ala249Val), and CCNH (Val270Ala). 17575242

2007

dbSNP: rs13181
rs13181
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
0.010 GeneticVariation BEFREE We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn and Lys751Gln) modify the association between arsenic and NMSC. 17687452

2007

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 and rs1799793) with the response rate and overall survival of cancer patients who accept neoadjuvant therapy has been extensively investigated.However, the results are inconclusive. 26426637

2015

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE Our analyses demonstrate that XPD rs13181 may be associated with an increase in the risk of lung cancer among Caucasian populations. 24845027

2014

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE In addition XPD rs13181 was also found to be associated with male POAG patients (χ(2) = 12.1 [p < 0.005]), for both dominant (OR = 2.44 [95% CI = 1.33-4.47], p < 0.005) as well as recessive model (OR = 3.62 [95% CI = 1.45-9.01], p < 0.01). 21617750

2011

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE A significant association was observed between X</span>PD</span> K75</span>1Q polymorphism and the risk of NPC using conditional logistic regression. 26086338

2015

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE A meta-analysis based on 9 independent case-control studies involving 3165 PCa patients and 3539 healthy controls for XPD Gln751Lys SNP (single nucleotide polymorphism) and 2555 cases and 3182 controls for Asn312Asp SNP was performed to address this association. 23028604

2012

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE This is the first study on DNA repair genetic polymorphisms in West Algerian population, and it suggests that the XRCC3 Thr241Met and XPD Lys751Gln polymorphisms may not be associated with the CRC risk in this population. 24687779

2014

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE The Xeroderma-Pigmentosum group-D polymorphism at codon-751 (XPD-Lys751Gln) emerged as the most significant independent predictor for death- and progression-risk in our previous study on functional polymorphisms in 122 advanced pancreatic cancer patients treated with cisplatin-docetaxel-capecitabine-gemcitabine and cisplatin-epirubicin-capecitabine-gemcitabine (or EC-GemCap). 23390054

2013

dbSNP: rs13181
rs13181
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

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE We investigated the genetic basis for these findings by analysing the Asp312Asn and Lys751Gln polymorphisms of the XPD (ERCC2) DNA repair gene in the same subjects. 14735199

2004

dbSNP: rs13181
rs13181
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

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE Significant ESCC risk was observed for XPD Lys751Gln (r</span>s13181</span>) frequency of presence C allele (OR: 1.409, 95% CI: 1.005-1.976) in the three ethnics. 21553048

2012

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE Our results suggest that the XPD Lys751Gln variant genotype increases the risk of CML. 24955348

2014

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE The ERCC1 rs13181 and XPD rs11615 polymorphisms were not predictive of clinical outcome for HCC patients receiving TACE (both p > 0.05). 26918371

2016

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE No association was found between p53 mutations and either XPD Lys751Gln or XRCC1 Arg399Gln. 12844488

2003

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE A statistically significant finding could be seen in noncardia-type gastric cancer for XPD Lys751Gln polymorphism. 23028453

2012

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE These data suggest that Asian populations have a significantly lower prevalence of codon 751 Lys/Gln polymorphism in XPD, which could be a key determinant for good response to oxaliplatin-based treatment and favorable outcomes. 19432884

2009

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE The genotypes of XPD Asp312Asn (p=0.2493), Lys751Gln (p=0.7547) and promoter -114 (p=0.8702), were not associated with susceptibility for colorectal cancer. 27069143

2016

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE In conclusion, our meta-analysis demonstrated that XPD Lys751Gln polymorphism could be a prediction marker for risk of head and neck cancer. 22179996

2011

dbSNP: rs13181
rs13181
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

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE No clear association between XPD Asp312Asn or XPD Lys751Gln gene polymorphisms and lung cancer was found. 15615908

2005

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE This is the first study to show that the MnSOD rs4880 and XPD rs13181 polymorphisms may influence the outcome of breast cancer patients receiving adjuvant TAM monotherapy. 24716840

2014

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE We conducted a case-control study to investigate the association of Human apurinic/apyrimidinic (AP) endonuclease (APEX1) Asp148Glu (rs1130409), Xeroderma Pigmentosum group D (XPD) Lys751Gln (rs13181), X-ray repair cross-complementing group 1 (XRCC) Arg399Gln (rs25487) and X-ray repair cross-complementing group 3 (XRCC3) Thr241Met (rs861539) polymorphisms with PE in a Mexican population. 24619222

2014

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE Numerous epidemiological studies have been conducted to investigate the association between Xeroderma pigmentosum complementation group D (XPD) Asp312Asn (rs1799793 G > A) and Lys751Gln (rs13181 A > C) polymorphisms and bladder cancer risk; however, the conclusions remain controversial. 24347488

2014