The association of APE1 −656T > G and 1349 T > G polymorphisms and cancer risk: a meta-analysis based on 37 case-control studies

BMC Cancer

Bin Zhou²  Hailin Shan²  Ying Su²  Kai Xia²  Xiaxia Shao³  Weidong Mao³  Qing Shao¹ 

[1] Department of General Surgery, Jiangyin People's Hospital, 163 Shoushan Road, Jiangyin 214400, China

[2] Department of General Surgery, Jiangyin People's Hospital, South-East University, Jiangyin, China

[3] Department of Oncology, Jiangyin People's Hospital, South-East University, Jiangyin, China

关键词: Meta-analysis;    Cancer risk;    Single nucleotide polymorphism;    cAPE1;   

Others  :  1080614
DOI  :  10.1186/1471-2407-11-521

 received in 2011-06-30, accepted in 2011-12-18,  发布年份 2011

【 摘 要 】

Background

APE1 (apurinic/apyrimidinic endonuclease 1) is an important DNA repair protein in the base excision repair pathway. Polymorphisms in APE1 have been implicated in susceptibility to cancer; however, results from the published studies remained inconclusive. The objective of this study was to conduct a meta-analysis investigating the association between polymorphisms in APE1 and the risk for cancer.

Methods

The PubMed and Embase databases were searched for case-control studies published up to June, 2011 that investigated APE1 polymorphisms and cancer risk. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the associations.

Results

Two polymorphisms (−656 T > G, rs1760944 and 1349 T > G, rs1130409) in 37 case-control studies including 15, 544 cancer cases and 21, 109 controls were analyzed. Overall, variant genotypes (GG and TG/GG) of −656 T > G polymorphism were associated with significantly decreased cancer risk in homozygote comparison (OR = 0.81, 95%CI: 0.67-0.97), dominant model comparison (OR = 0.89, 95%CI: 0.81-0.97) and recessive model comparison (OR = 0.90, 95%CI: 0.82-0.98), whereas the 1349 T > G polymorphism had no effects on overall cancer risk. In the stratified analyses for −656 T > G polymorphism, there was a significantly decreased risk of lung cancer and among Asian populations.

Conclusions

Although some modest bias could not be eliminated, the meta-analysis suggests that APE1 −656 T > G polymorphism has a possible protective effect on cancer risk particularly among Asian populations whereas 1349 T > G polymorphism does not contribute to the development of cancer.

【 授权许可】

   
2011 Zhou et al; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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【 参考文献 】

• [1]Pharoah PD, Dunning AM, Ponder BA, Easton DF: Association studies for finding cancer-susceptibility genetic variants. Nat Rev Cancer 2004, 4(11):850-860.
• [2]Iscovich J, Howe GR: Cancer incidence patterns (1972-91) among migrants from the Soviet Union to Israel. Cancer Causes Control 1998, 9(1):29-36.
• [3]Hecht SS: Cigarette smoking and lung cancer: chemical mechanisms and approaches to prevention. Lancet Oncol 2002, 3(8):461-469.
• [4]Hoeijmakers JH: Genome maintenance mechanisms for preventing cancer. Nature 2001, 411(6835):366-374.
• [5]Barzilay G, Hickson ID: Structure and function of apurinic/apyrimidinic endonucleases. Bioessays 1995, 17(8):713-719.
• [6]Tell G, Quadrifoglio F, Tiribelli C, Kelley MR: The many functions of APE1/Ref-1: not only a DNA repair enzyme. Antioxid Redox Signal 2009, 11(3):601-620.
• [7]Izumi T, Hazra TK, Boldogh I, Tomkinson AE, Park MS, Ikeda S, Mitra S: Requirement for human AP endonuclease 1 for repair of 3'-blocking damage at DNA single-strand breaks induced by reactive oxygen species. Carcinogenesis 2000, 21(7):1329-1334.
• [8]Fortini P, Pascucci B, Parlanti E, D'Errico M, Simonelli V, Dogliotti E: The base excision repair: mechanisms and its relevance for cancer susceptibility. Biochimie 2003, 85(11):1053-1071.
• [9]Bhakat KK, Mantha AK, Mitra S: Transcriptional regulatory functions of mammalian AP-endonuclease (APE1/Ref-1), an essential multifunctional protein. Antioxid Redox Signal 2009, 11(3):621-638.
• [10]Tell G, Fantini D, Quadrifoglio F: Understanding different functions of mammalian AP endonuclease (APE1) as a promising tool for cancer treatment. Cell Mol Life Sci 2010, 67(21):3589-3608.
• [11]Xi T, Jones IM, Mohrenweiser HW: Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. Genomics 2004, 83(6):970-979.
• [12]Lu J, Zhang S, Chen D, Wang H, Wu W, Wang X, Lei Y, Wang J, Qian J, Fan W, et al.: Functional characterization of a promoter polymorphism in APE1/Ref-1 that contributes to reduced lung cancer susceptibility. FASEB J 2009, 23(10):3459-3469.
• [13]Lo YL, Jou YS, Hsiao CF, Chang GC, Tsai YH, Su WC, Chen KY, Chen YM, Huang MS, Hu CY, et al.: A polymorphism in the APE1 gene promoter is associated with lung cancer risk. Cancer Epidemiol Biomarkers Prev 2009, 18(1):223-229.
• [14]Wang M, Qin C, Zhu J, Yuan L, Fu G, Zhang Z, Yin C: Genetic variants of XRCC1, APE1, and ADPRT genes and risk of bladder cancer. DNA Cell Biol 2010, 29(6):303-311.
• [15]Zhou K, Hu D, Lu J, Fan W, Liu H, Chen H, Chen G, Wei Q, Du G, Mao Y, et al.: A genetic variant in the APE1/Ref-1 gene promoter -141 T/G may modulate risk of glioblastoma in a Chinese Han population. BMC Cancer 2011, 11:104. BioMed Central Full Text
• [16]Berndt SI, Huang WY, Fallin MD, Helzlsouer KJ, Platz EA, Weissfeld JL, Church TR, Welch R, Chanock SJ, Hayes RB: Genetic variation in base excision repair genes and the prevalence of advanced colorectal adenoma. Cancer Res 2007, 67(3):1395-1404.
• [17]Figueroa JD, Malats N, Real FX, Silverman D, Kogevinas M, Chanock S, Welch R, Dosemeci M, Tardon A, Serra C, et al.: Genetic variation in the base excision repair pathway and bladder cancer risk. Hum Genet 2007, 121(2):233-242.
• [18]Hadi MZ, Coleman MA, Fidelis K, Mohrenweiser HW, Wilson DM: Functional characterization of Ape1 variants identified in the human population. Nucleic Acids Res 2000, 28(20):3871-3879.
• [19]Au WW, Salama SA, Sierra-Torres CH: Functional characterization of polymorphisms in DNA repair genes using cytogenetic challenge assays. Environ Health Perspect 2003, 111(15):1843-1850.
• [20]Mantel N, Haenszel W: Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 1959, 22(4):719-748.
• [21]DerSimonian R, Laird N: Meta-analysis in clinical trials. Control Clin Trials 1986, 7(3):177-188.
• [22]Mitra AK, Singh N, Singh A, Garg VK, Agarwal A, Sharma M, Chaturvedi R, Rath SK: Association of polymorphisms in base excision repair genes with the risk of breast cancer: a case-control study in North Indian women. Oncol Res 2008, 17(3):127-135.
• [23]Misra RR, Ratnasinghe D, Tangrea JA, Virtamo J, Andersen MR, Barrett M, Taylor PR, Albanes D: Polymorphisms in the DNA repair genes XPD, XRCC1, XRCC3, and APE/ref-1, and the risk of lung cancer among male smokers in Finland. Cancer Lett 2003, 191(2):171-178.
• [24]Popanda O, Schattenberg T, Phong CT, Butkiewicz D, Risch A, Edler L, Kayser K, Dienemann H, Schulz V, Drings P, et al.: Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer. Carcinogenesis 2004, 25(12):2433-2441.
• [25]Hao B, Wang H, Zhou K, Li Y, Chen X, Zhou G, Zhu Y, Miao X, Tan W, Wei Q, et al.: Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res 2004, 64(12):4378-4384.
• [26]Ito H, Matsuo K, Hamajima N, Mitsudomi T, Sugiura T, Saito T, Yasue T, Lee KM, Kang D, Yoo KY, et al.: Gene-environment interactions between the smoking habit and polymorphisms in the DNA repair genes, APE1 Asp148Glu and XRCC1 Arg399Gln, in Japanese lung cancer risk. Carcinogenesis 2004, 25(8):1395-1401.
• [27]Shen M, Berndt SI, Rothman N, Mumford JL, He X, Yeager M, Welch R, Chanock S, Keohavong P, Donahue M, et al.: Polymorphisms in the DNA base excision repair genes APEX1 and XRCC1 and lung cancer risk in Xuan Wei, China. Anticancer Res 2005, 25(1B):537-542.
• [28]Moreno V, Gemignani F, Landi S, Gioia-Patricola L, Chabrier A, Blanco I, Gonzalez S, Guino E, Capella G, Canzian F: Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin Cancer Res 2006, 12(7 Pt 1):2101-2108.
• [29]Jiao L, Bondy ML, Hassan MM, Wolff RA, Evans DB, Abbruzzese JL, Li D: Selected polymorphisms of DNA repair genes and risk of pancreatic cancer. Cancer Detect Prev 2006, 30(3):284-291.
• [30]Terry PD, Umbach DM, Taylor JA: APE1 genotype and risk of bladder cancer: evidence for effect modification by smoking. Int J Cancer 2006, 118(12):3170-3173.
• [31]Wu X, Gu J, Grossman HB, Amos CI, Etzel C, Huang M, Zhang Q, Millikan RE, Lerner S, Dinney CP, et al.: Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Am J Hum Genet 2006, 78(3):464-479.
• [32]Zhang Y, Newcomb PA, Egan KM, Titus-Ernstoff L, Chanock S, Welch R, Brinton LA, Lissowska J, Bardin-Mikolajczak A, Peplonska B, et al.: Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2006, 15(2):353-358.
• [33]Matullo G, Dunning AM, Guarrera S, Baynes C, Polidoro S, Garte S, Autrup H, Malaveille C, Peluso M, Airoldi L, et al.: DNA repair polymorphisms and cancer risk in non-smokers in a cohort study. Carcinogenesis 2006, 27(5):997-1007.
• [34]Chen L, Ambrosone CB, Lee J, Sellers TA, Pow-Sang J, Park JY: Association between polymorphisms in the DNA repair genes XRCC1 and APE1, and the risk of prostate cancer in white and black Americans. J Urol 2006, 175(1):108-112. discussion 112
• [35]Li C, Hu Z, Lu J, Liu Z, Wang LE, El-Naggar AK, Sturgis EM, Spitz MR, Wei Q: Genetic polymorphisms in DNA base-excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck. Cancer 2007, 110(4):867-875.
• [36]Andrew AS, Karagas MR, Nelson HH, Guarrera S, Polidoro S, Gamberini S, Sacerdote C, Moore JH, Kelsey KT, Demidenko E, et al.: DNA repair polymorphisms modify bladder cancer risk: a multi-factor analytic strategy. Hum Hered 2008, 65(2):105-118.
• [37]Pardini B, Naccarati A, Novotny J, Smerhovsky Z, Vodickova L, Polakova V, Hanova M, Slyskova J, Tulupova E, Kumar R, et al.: DNA repair genetic polymorphisms and risk of colorectal cancer in the Czech Republic. Mutat Res 2008, 638(1-2):146-153.
• [38]Tse D, Zhai R, Zhou W, Heist RS, Asomaning K, Su L, Lynch TJ, Wain JC, Christiani DC, Liu G: Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk. Cancer Causes Control 2008, 19(10):1077-1083.
• [39]Huang WY, Gao YT, Rashid A, Sakoda LC, Deng J, Shen MC, Wang BS, Han TQ, Zhang BH, Chen BE, et al.: Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in China. Carcinogenesis 2008, 29(1):100-105.
• [40]Chiang FY, Wu CW, Hsiao PJ, Kuo WR, Lee KW, Lin JC, Liao YC, Juo SH: Association between polymorphisms in DNA base excision repair genes XRCC1, APE1, and ADPRT and differentiated thyroid carcinoma. Clin Cancer Res 2008, 14(18):5919-5924.
• [41]Smith TR, Levine EA, Freimanis RI, Akman SA, Allen GO, Hoang KN, Liu-Mares W, Hu JJ: Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis 2008, 29(11):2132-2138.
• [42]Gangwar R, Ahirwar D, Mandhani A, Mittal RD: Influence of XPD and APE1 DNA repair gene polymorphism on bladder cancer susceptibility in north India. Urology 2009, 73(3):675-680.
• [43]Agachan B, Kucukhuseyin O, Aksoy P, Turna A, Yaylim I, Gormus U, Ergen A, Zeybek U, Dalan B, Isbir T: Apurinic/apyrimidinic endonuclease (APE1) gene polymorphisms and lung cancer risk in relation to tobacco smoking. Anticancer Res 2009, 29(6):2417-2420.
• [44]Deng Q, Sheng L, Su D, Zhang L, Liu P, Lu K, Ma S: Genetic polymorphisms in ATM, ERCC1, APE1 and iASPP genes and lung cancer risk in a population of southeast China. Med Oncol 2011, 28(3):667-672.
• [45]Palli D, Polidoro S, D'Errico M, Saieva C, Guarrera S, Calcagnile AS, Sera F, Allione A, Gemma S, Zanna I, et al.: Polymorphic DNA repair and metabolic genes: a multigenic study on gastric cancer. Mutagenesis 2010, 25(6):569-575.
• [46]Jelonek K, Gdowicz-Klosok A, Pietrowska M, Borkowska M, Korfanty J, Rzeszowska-Wolny J, Widlak P: Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population. J Appl Genet 2010, 51(3):343-352.
• [47]Cao Q, Qin C, Meng X, Ju X, Ding Q, Wang M, Zhu J, Wang W, Li P, Chen J, et al.: Genetic polymorphisms in APE1 are associated with renal cell carcinoma risk in a chinese population. Mol Carcinog 2011, 50(11):863-870.
• [48]Duval S, Tweedie R: Trim and fill: A simple funnel-plot-based method of testing and adjusting for publication bias in meta-analysis. Biometrics 2000, 56(2):455-463.
• [49]Lindahl T: Recognition and processing of damaged DNA. J Cell Sci Suppl 1995, 19:73-77.
• [50]Hu JJ, Smith TR, Miller MS, Lohman K, Case LD: Genetic regulation of ionizing radiation sensitivity and breast cancer risk. Environ Mol Mutagen 2002, 39(2-3):208-215.
• [51]Gu D, Wang M, Zhang Z, Chen J: The DNA repair gene APE1 T1349G polymorphism and cancer risk: a meta-analysis of 27 case-control studies. Mutagenesis 2009, 24(6):507-512.
• [52]Zienolddiny S, Campa D, Lind H, Ryberg D, Skaug V, Stangeland L, Phillips DH, Canzian F, Haugen A: Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis 2006, 27(3):560-567.
• [53]De Ruyck K, Szaumkessel M, De Rudder I, Dehoorne A, Vral A, Claes K, Velghe A, Van Meerbeeck J, Thierens H: Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk. Mutat Res 2007, 631(2):101-110.
• [54]Canbay E, Agachan B, Gulluoglu M, Isbir T, Balik E, Yamaner S, Bulut T, Cacina C, Eraltan IY, Yilmaz A, et al.: Possible associations of APE1 polymorphism with susceptibility and HOGG1 polymorphism with prognosis in gastric cancer. Anticancer Res 2010, 30(4):1359-1364.