|
|
Functional XPF polymorphisms associated with lung cancer susceptibility in a Chinese
population |
Dian-Ke YU PhD,Chen WU MD,Wen TAN MD,Dong-Xin LIN MD, |
State Key Laboratory
of Molecular Oncology and Department of Etiology & Carcinogenesis,
Cancer Institute & Hospital, Chinese Academy of Medical Sciences
and Peking Union Medical College, Beijing 100210, China; |
|
|
Abstract Variation of individuals’ DNA repair capacity has been linked to cancer susceptibility. The xeroderma pigmentsum group F (XPF) plays a pivotal role in nucleotide-excision repair (NER) pathway. This study was to examine the functional significance of XPF promoter polymorphisms and their association with lung cancer risk. The function of XPF promoter polymorphisms was tested by a set of biochemical assays, and their effects on lung cancer risk were determined by a case-control analysis of 988 patients with lung cancer and 986 controls. The XPF−673T allele showed a significantly higher transcriptional activity as compared with the −673C allele. The −673TT genotype was associated with a decreased risk of lung cancer compared with the CC genotype (adjusted OR=0.62, 95% CI=0.42–0.91; P=0.015) and this effect was more significant among males (adjusted OR=0.55, 95% CI=0.35–0.86; P=0.009), elder subjects (adjusted OR=0.51, 95% CI=0.30–0.86; P=0.012), and light smokers (adjusted OR=0.35, 95% CI=0.14–0.88; P=0.026). These findings suggest that functional polymorphisms influencing DNA repair capacity may confer susceptibility to lung cancer.
|
Keywords
XPF
polymorphism
lung cancer
|
Issue Date: 05 March 2010
|
|
|
Herbst R S, Heymach J V, Lippman S M. Lung cancer. N Engl J Med, 2008, 359(13): 1367―1380
doi: 10.1056/NEJMra0802714
|
|
Duarte R L, Paschoal M E. Molecular markers in lung cancer: prognostic role and relationshipto smoking. J Bras Pneumol, 2006, 32(1): 56―65
|
|
Friedberg E C. How nucleotide excision repair protects against cancer. Nat Rev Cancer, 2001, 1(1): 22―33
doi: 10.1038/35094000
|
|
Tsodikov O V, Enzlin J H, Scharer O D, Ellenberger T. Crystal structure and DNA binding functions of ERCC1,a subunit of the DNA structure-specific endonuclease XPF-ERCC1. Proc Natl Acad Sci USA, 2005, 102(32): 11236―11241
doi: 10.1073/pnas.0504341102
|
|
Choi Y J, Ryu K S, Ko Y M, Chae Y K, Pelton J G, Wemmer D E, Choi B S. Biophysicalcharacterization of the interaction domains and mapping of the contactresidues in the XPF-ERCC1 complex. J BiolChem, 2005, 280(31): 28644―28652
doi: 10.1074/jbc.M501083200
|
|
Gaillard P H, Wood R D. Activityof individual ERCC1 and XPF subunits in DNA nucleotide excision repair. Nucleic Acids Res, 2001, 29(4): 872―879
doi: 10.1093/nar/29.4.872
|
|
Niedernhofer L J, Odijk H, Budzowska M, van Drunen E, Maas A, Theil A F, de Wit J, Jaspers N G, Beverloo H B, Hoeijmakers J H, Kanaar R. The structure-specific endonucleaseErcc1-Xpf is required to resolve DNA interstrand cross-link-induceddouble-strand breaks. Mol Cell Biol, 2004, 24(13): 5776―5787
doi: 10.1128/MCB.24.13.5776-5787.2004
|
|
Niedernhofer L J, Essers J, Weeda G, Beverloo B, de Wit J, Muijtjens M, Odijk H, Hoeijmakers J H, Kanaar R. The structure-specific endonucleaseErcc1-Xpf is required for targeted gene replacement in embryonic stemcells. EMBO J, 2001, 20(22): 6540―6549
doi: 10.1093/emboj/20.22.6540
|
|
Zhu X D, Niedernhofer L, Kuster B, Mann M, Hoeijmakers J H, de Lange T. ERCC1/XPF removes the 3'overhang from uncapped telomeres and represses formation of telomericDNA-containing double minute chromosomes. Mol Cell, 2003, 12(6): 1489―1498
doi: 10.1016/S1097-2765(03)00478-7
|
|
McWilliams R R, Bamlet W R, Cunningham J M, Goode E L, de Andrade M, Boardman L A, Petersen G M. Polymorphisms in DNA repair genes, smoking, and pancreaticadenocarcinoma risk. Cancer Res, 2008, 68(12): 4928―4935
doi: 10.1158/0008-5472.CAN-07-5539
|
|
Shao M, Ma H, Wang Y, Xu L, Yuan J, Wang Y, Hu Z, Yang L, Wang F, Liu H, Qian J, Xun P, Chen W, Yuan W, Jing G, Chen F, Jin L, Wei Q, Wu T, Shen H, Huang W, Lu D. Polymorphismsin excision repair cross-complementing group 4 (ERCC4) and susceptibilityto primary lung cancer in a Chinese Han population. Lung Cancer, 2008, 60(3): 332―339
doi: 10.1016/j.lungcan.2007.10.023
|
|
Milne R L, Ribas G, Gonzalez-Neira A, Fagerholm R, Salas A, Gonzalez E, Dopazo J, Nevanlinna H, Robledo M, Benitez J. ERCC4 associated with breast cancer risk: a two-stage case-controlstudy using high-throughput genotyping. Cancer Res, 2006, 66(19): 9420―9427
doi: 10.1158/0008-5472.CAN-06-1418
|
|
Zienolddiny S, Campa D, Lind H, Ryberg D, Skaug V, Stangeland L, Phillips D H, Canzian F, Haugen A. Polymorphisms of DNA repair genes and risk of non-smallcell lung cancer. Carcinogenesis, 2006, 27(3): 560―567
doi: 10.1093/carcin/bgi232
|
|
Abbasi R, Ramroth H, Becher H, Dietz A, Schmezer P, Popanda O. Laryngeal cancer risk associatedwith smoking and alcohol consumption is modified by genetic polymorphismsin ERCC5, ERCC6 and RAD23B but not by polymorphisms in five othernucleotide excision repair genes. Int JCancer, 2009, 125(6): 1431―1439
doi: 10.1002/ijc.24442
|
|
Shen M, Berndt S I, Rothman N, Demarini D M, Mumford J L, He X, Bonner M R, Tian L, Yeager M, Welch R, Chanock S, Zheng T, Caporaso N, Lan Q. Polymorphismsin the DNA nucleotide excision repair genes and lung cancer risk inXuan Wei, China. Int J Cancer, 2005, 116(5): 768―773
doi: 10.1002/ijc.21117
|
|
Zhang X, Miao X, Liang G, Hao B, Wang Y, Tan W, Li Y, Guo Y, He F, Wei Q, Lin D. Polymorphisms in DNA base excision repair genes ADPRTand XRCC1 and risk of lung cancer. CancerRes, 2005, 65(3): 722―726
|
|
Liang G, Xing D, Miao X, Tan W, Yu C, Lu W, Lin D. Sequence variationsin the DNA repair gene XPD and risk of lung cancer in a Chinese population. Int J Cancer, 2003, 105(5): 669―673
doi: 10.1002/ijc.11136
|
|
International HapMapConsortium. The International HapMap Project. Nature, 2003, 426(6968): 789―796
doi: 10.1038/nature02168
|
|
Barrett J C, Fry B, Maller J, Daly M J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 2005, 21(2): 263―265
doi: 10.1093/bioinformatics/bth457
|
|
Lehmann U, Kreipe H. Real-timePCR analysis of DNA and RNA extracted from formalin-fixed and paraffin-embeddedbiopsies. Methods, 2001, 25(4): 409―418
doi: 10.1006/meth.2001.1263
|
|
Drablos F, Feyzi E, Aas P A, Vaagbo C B, Kavli B, Bratlie M S, Pena-Diaz J, Otterlei M, Slupphaug G, Krokan H E. Alkylationdamage in DNA and RNA―repair mechanisms and medical significance. DNA Repair, 2004, 3(11): 1389―1407
doi: 10.1016/j.dnarep.2004.05.004
|
|
Yu D, Zhang X, Liu J, Yuan P, Tan W, Guo Y, Sun T, Zhao D, Yang M, Liu J, Xu B, Lin D. Characterizationof functional excision repair cross-complementation group 1 variantsand their association with lung cancer risk and prognosis. Clin Cancer Res, 2008, 14(9): 2878–2886
doi: 10.1158/1078-0432.CCR-07-1612
|
|
Zhou W, Liu G, Miller D P, Thurston S W, Xu L L, Wain, J C, Lynch T J, Su L, Christiani D C. Polymorphisms in the DNA repair genes XRCC1 and ERCC2, smoking, andlung cancer risk. Cancer Epidemiol BiomarkersPrev, 2003, 12(4): 359―365
|
|
Sun T, Miao X, Zhang X, Tan W, Xiong P, Lin D. Polymorphisms of death pathway genes FAS and FASL inesophageal squamous-cell carcinoma. J NatlCancer Inst, 2004, 96(13): 1030―1036
|
|
Hao B, Miao X, Li Y, Zhang X, Sun T, Liang G, Zhao Y, Zhou Y, Wang H, Chen X, Zhang L, Tan W, Wei Q, Lin D, He F. A novel T-77C polymorphismin DNA repair gene XRCC1 contributes to diminished promoter activityand increased risk of non-small cell lung cancer. Oncogene, 2006, 25(25): 3613―3620
doi: 10.1038/sj.onc.1209355
|
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
|
Shared |
|
|
|
|
|
Discussed |
|
|
|
|