rs2228001, XPC

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE The relationship between three polymorphisms (Ala499Val, PAT, and Lys939Gln) of the XPC (MIM: 613208) and the risk of schizophrenia is investigated. 30769138 2019
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
0.010 GeneticVariation BEFREE However, no significant association was observed for leiomyoma risk for rs2228001 A > C. This study indicated that genetic variations in XPC gene are associated with leiomyoma susceptibility in a reproductive women population. 31428994 2019
Fibroid Tumor
CUI: C0023267
Disease: Fibroid Tumor
0.010 GeneticVariation BEFREE However, no significant association was observed for leiomyoma risk for rs2228001 A > C. This study indicated that genetic variations in XPC gene are associated with leiomyoma susceptibility in a reproductive women population. 31428994 2019
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
0.010 GeneticVariation BEFREE The present study has genotyped 334 subjects from North Indian population for xeroderma pigmentosum complementation Group C (XPC) rs2228001A>C, XPC rs77907221 polyadenylate (PAT) deletion/insertion (D/I), xeroderma pigmentosum complementation Group D - rs13181A>C, and xeroderma pigmentosum complementation Type G rs17655 G>C polymorphisms with polymerase chain reaction (PCR)-restriction-fragment length polymorphism or allele-specific PCR methods. 29893334 2018
Carcinoma of urinary bladder, invasive
0.010 GeneticVariation BEFREE These polymorphisms were also associated with both low-grade [(rs2304277 OR<sub>GG</sub> = 3.73, 95% CI = 1.72-8.09) (rs2228001 OR<sub>AC</sub> = 2.18, 95% CI = 1.21-3.92)] and high-grade tumors [(rs2304277 OR<sub>GG</sub> = 3.45, 95% CI = 1.52-7.80) (rs2228001 OR<sub>AC</sub> = 2.81, 95% CI = 1.48-5.33)] as well as with non-muscle-invasive bladder cancer [(rs2304277 OR<sub>GG</sub> = 4.03, 95% CI = 1.87-8.67) (rs2228001 OR<sub>AC</sub> = 2.14, 95% CI = 1.20-3.81)] and muscle-invasive bladder cancer [(rs2304277 OR<sub>GG</sub> = 3.06, 95%CI = 1.31-7.13) (rs2228001 OR<sub>AC</sub> = 2.95, 95%CI = 1.51-5.75)]. 29139108 2018
progesterone receptor-negative breast cancer
0.010 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
progesterone receptor-positive breast cancer
0.010 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
leukemia
CUI: C0023418
Disease: leukemia
0.010 GeneticVariation BEFREE In this study we aimed to evaluate the associations between XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181) and XPG Asp1104His (rs17655) polymorphisms and leukemia risk in a Tunisian population. 25311495 2015
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.010 GeneticVariation BEFREE In this study we aimed to evaluate the associations between XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181) and XPG Asp1104His (rs17655) polymorphisms and leukemia risk in a Tunisian population. 25311495 2015
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
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE The aims of this study were to analyze the polymorphisms XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPC Lys939Gln, ERCC1 Asn118Asn, and RAD51 -98G>C and to verify their influence on radiotherapy response and prognosis of patients with head and neck squamous cell carcinoma (HNSCC). 26505394 2015
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE This meta-analysis shows that the XPC PAT and Ala499Val polymorphisms may be associated with an increased risk of HNC, while XPC Lys939Gln may not be associated with HNC risk. 24338715 2014
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
0.010 GeneticVariation BEFREE This meta-analysis shows that the XPC PAT and Ala499Val polymorphisms may be associated with an increased risk of HNC, while XPC Lys939Gln may not be associated with HNC risk. 24338715 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.010 GeneticVariation BEFREE In this study, we investigated whether six polymorphisms (including rs25487, rs861539, rs7003908, rs28383151, rs13181, and rs2228001) in DNA repair genes (XPC, XRCC4, XRCC1, XRCC4, XPD, XRCC7, and XRCC3) interacted with AFB1, and the gene-environmental interactive role in the risk of HCC using hospital-based case-control study (including 1486 HCC cases and 1996 controls). 25337275 2014
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.010 GeneticVariation BEFREE Subgroup analysis in Caucasians showed that there was an obvious association between XPC Lys939Gln</span> polymorphism and cutaneous melanoma risk in Caucasians (GlnGln vs. LysLys/LysGln: OR = 1.12, 95 % CI = 1.00-1.25, P = 0.05). 24277375 2014
melanoma
CUI: C0025202
Disease: melanoma
0.010 GeneticVariation BEFREE Subgroup analysis in Caucasians showed that there was an obvious association between XPC Lys939Gln</span> polymorphism and cutaneous melanoma risk in Caucasians (GlnGln vs. LysLys/LysGln: OR = 1.12, 95 % CI = 1.00-1.25, P = 0.05). 24277375 2014
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.010 GeneticVariation BEFREE Our results indicated that the XPC Lys939Gln polymorphism may correlate with clinical outcome of patients with epithelial ovarian cancer when treated with platinum-based chemotherapy in Northern China. 23621265 2013
Differentiated Thyroid Gland Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that NER polymorphisms such as rs2230641 (CCNH) and, possibly, rs2227869 (ERCC5) and rs2228001 (XPC), may influence DTC susceptibility. 23982724 2013
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE Our results indicated that the XPC Lys939Gln polymorphism may correlate with clinical outcome of patients with epithelial ovarian cancer when treated with platinum-based chemotherapy in Northern China. 23621265 2013
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
0.010 GeneticVariation BEFREE Two polymorphisms in XPC, 939A>C (rs2228001) and 499C>T (rs2228000), are considered to have possible associations with the risk of skin cancer, but the reported results have been inconsistent. 23244095 2012
Gallbladder adenocarcinoma
CUI: C0279651
Disease: Gallbladder adenocarcinoma
0.010 GeneticVariation BEFREE Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their correlation with the risk of primary gallbladder adenocarcinoma--a case-control study in China. 21113018 2011
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
0.010 GeneticVariation BEFREE In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction-restriction fragment length polymorphism assay. 21113018 2011
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.010 GeneticVariation BEFREE In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction-restriction fragment length polymorphism assay. 21113018 2011
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction-restriction fragment length polymorphism assay. 21113018 2011
Stage IIB Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction-restriction fragment length polymorphism assay. 21113018 2011