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01.02.2014 | Review

The association between HIF-1α polymorphism and cancer risk: a systematic review and meta-analysis

verfasst von: Xin Hu, Yuan Fang, Jun Zheng, Yazhou He, Xin Zan, Sen Lin, Xi Li, Hao Li, Chao You

Erschienen in: Tumor Biology | Ausgabe 2/2014

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Abstract

Epidemiological studies have assessed the association between HIF-1α polymorphisms and cancer risk. However, the results remained conflicting rather than conclusive. Therefore, we performed a systematic review to provide a complete picture and conducted a meta-analysis to derive a precise estimation. We searched PubMed, Embase, and China National Knowledge Infrastructure (CNKI) databases until July 2013 to identify eligible studies. Data sets (43) from 39 studies with a total of 10,841 cases and 14,682 controls were included. The most commonly investigated polymorphism was C1772T, followed by G1790A, C111A, and rs2057482. Overall, C1772T and G1790A but not rs2057482 were associated with increased risk for cancer. When stratified by cancer type, C1772T was associated with increased risk for cervical cancer (T/T vs. C/T+C/C: OR = 8.80, 95 % CI = 2.30–33.70), prostate cancer (T vs. C: OR = 1.54, 95 % CI = 1.04–2.30), and other cancers (T vs. C: OR = 1.42, 95 % CI = 1.07–1.89), but not oral, breast, colorectal, endometrial, lung, and bladder cancers or renal cell carcinoma. G1790A was associated with marginal but insignificant risk for prostate cancer (A vs. G: OR = 1.46, 95 % CI = 1.00–2.13, P = 0.056) and with increased risk for oral (A vs. G: OR = 9.66, 95 % CI = 1.31–71.15), lung (A vs. G: OR = 2.27, 95 % CI = 1.74–2.96), and other cancers (A vs. G: OR = 2.06, 95 % CI = 1.26–3.37) and renal cell carcinoma (A/A vs. G/A+G/G: OR = 3.05, 95 % CI = 1.36–6.84), but not breast, colorectal, cervical, or bladder cancer. Furthermore, we detected increased cancer risk in haplotypes TA and CA and in those carrying at least one risk allele, and decreased cancer risk in haplotype TG regarding C1772T and G1790A polymorphisms. Further well-designed studies on various cancer types are warranted to verify our findings.

Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D. Global cancer statistics. CA Cancer J Clin. 2011;61:69–90.PubMedCrossRef

Wang GL, Semenza GL. General involvement of hypoxia-inducible factor 1 in transcriptional response to hypoxia. Proc Natl Acad Sci U S A. 1993;90:4304–8.PubMedCentralPubMedCrossRef

Semenza GL. Regulation of mammalian O₂ homeostasis by hypoxia-inducible factor 1. Annu Rev Cell Dev Biol. 1999;15:551–78.PubMedCrossRef

Semenza GL. Targeting HIF-1 for cancer therapy. Nat Rev Cancer. 2003;3:721–32.PubMedCrossRef

Semenza GL. HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus. Cell. 2001;107:1–3.PubMedCrossRef

Kimura H, Weisz A, Ogura T, Hitomi Y, Kurashima Y, Hashimoto K, et al. Identification of hypoxia-inducible factor 1 ancillary sequence and its function in vascular endothelial growth factor gene induction by hypoxia and nitric oxide. J Biol Chem. 2001;276:2292–8.PubMed

Brennan PA, Umar T, Smith GI, Lo CH, Tant S. Expression of nitric oxide synthase-2 in cutaneous squamous cell carcinoma of the head and neck. Br J Oral Maxillofac Surg. 2002;40:191–4.PubMedCrossRef

Epstein AC, Gleadle JM, McNeill LA, Hewitson KS, O'Rourke J, Mole DR, et al. C. Elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell. 2001;107:43–54.PubMedCrossRef

Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, et al. HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O₂ sensing. Science. 2001;292:464–8.PubMedCrossRef

10.

Jaakkola P, Mole DR, Tian YM, Wilson MI, Gielbert J, Gaskell SJ, et al. Targeting of HIF-alpha to the von Hippel–Lindau ubiquitylation complex by O₂-regulated prolyl hydroxylation. Science. 2001;292:468–72.PubMedCrossRef

11.

Zhong H, De Marzo AM, Laughner E, Lim M, Hilton DA, Zagzag D, et al. Overexpression of hypoxia-inducible factor 1alpha in common human cancers and their metastases. Cancer Res. 1999;59:5830–5.PubMed

12.

Talks KL, Turley H, Gatter KC, Maxwell PH, Pugh CW, Ratcliffe PJ, et al. The expression and distribution of the hypoxia-inducible factors HIF-1alpha and HIF-2alpha in normal human tissues, cancers, and tumor-associated macrophages. Am J Pathol. 2000;157:411–21.PubMedCrossRef

13.

Marton I, Knezevic F, Ramic S, Milosevic M, Tomas D. Immunohistochemical expression and prognostic significance of HIF-1alpha and VEGF-c in neuroendocrine breast cancer. Anticancer Res. 2012;32:5227–32.PubMed

14.

Bos R, Zhong H, Hanrahan CF, Mommers EC, Semenza GL, Pinedo HM, et al. Levels of hypoxia-inducible factor-1 alpha during breast carcinogenesis. J Natl Cancer Inst. 2001;93:309–14.PubMedCrossRef

15.

Birner P, Schindl M, Obermair A, Plank C, Breitenecker G, Oberhuber G. Overexpression of hypoxia-inducible factor 1alpha is a marker for an unfavorable prognosis in early-stage invasive cervical cancer. Cancer Res. 2000;60:4693–6.PubMed

16.

Semenza GL, Rue EA, Iyer NV, Pang MG, Kearns WG. Assignment of the hypoxia-inducible factor 1alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q. Genomics. 1996;34:437–9.PubMedCrossRef

17.

Prior SJ, Hagberg JM, Phares DA, Brown MD, Fairfull L, Ferrell RE, et al. Sequence variation in hypoxia-inducible factor 1alpha (HIF1a): association with maximal oxygen consumption. Physiol Genomics. 2003;15:20–6.PubMed

18.

Szkandera J, Knechtel G, Stotz M, Hofmann G, Langsenlehner U, Krippl P, et al. Association of hypoxia-inducible factor 1-alpha gene polymorphisms and colorectal cancer prognosis. Anticancer Res. 2010;30:2393–7.PubMed

19.

Gu HF, Zheng X. Abu Seman N, Gu T, Botusan IR, Sunkari VG, Lokman EF, Brismar K, Catrina SB: Impact of the hypoxia-inducible factor-1 alpha (HIF1a) pro582ser polymorphism on diabetes nephropathy. Diabetes Care. 2013;36:415–21.PubMedCrossRef

20.

Apaydin I, Konac E, Onen HI, Akbaba M, Tekin E, Ekmekci A. Single nucleotide polymorphisms in the hypoxia-inducible factor-1alpha (HIF-1alpha) gene in human sporadic breast cancer. Arch Med Res. 2008;39:338–45.PubMedCrossRef

21.

Tanimoto K, Yoshiga K, Eguchi H, Kaneyasu M, Ukon K, Kumazaki T, et al. Hypoxia-inducible factor-1alpha polymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis. 2003;24:1779–83.PubMedCrossRef

22.

Fu XS, Choi E, Bubley GJ, Balk SP. Identification of hypoxia-inducible factor-1alpha (HIF-1alpha) polymorphism as a mutation in prostate cancer that prevents normoxia-induced degradation. Prostate. 2005;63:215–21.PubMedCrossRef

23.

Xu G, Wang M, Xie W, Bai X. Hypoxia-inducible factor-1 alpha C1772T gene polymorphism and glioma risk: a hospital-based case–control study from China. Genet Test Mol Biomarkers. 2011;15:461–4.PubMedCrossRef

24.

Konac E, Onen HI, Metindir J, Alp E, Biri AA, Ekmekci A. An investigation of relationships between hypoxia-inducible factor-1 alpha gene polymorphisms and ovarian, cervical and endometrial cancers. Cancer Detect Prev. 2007;31:102–9.PubMedCrossRef

25.

Wang X, Liu Y, Ren H, Yuan Z, Li S, Sheng J, et al. Polymorphisms in the hypoxia-inducible factor-1alpha gene confer susceptibility to pancreatic cancer. Cancer Biol Ther. 2011;12:383–7.PubMedCrossRef

26.

Hsiao PC, Chen MK, Su SC, Ueng KC, Chen YC, Hsieh YH, et al. Hypoxia inducible factor-1alpha gene polymorphism G1790A and its interaction with tobacco and alcohol consumptions increase susceptibility to hepatocellular carcinoma. J Surg Oncol. 2010;102:163–9.PubMedCrossRef

27.

Chen MK, Chiou HL, Su SC, Chung TT, Tseng HC, Tsai HT, et al. The association between hypoxia inducible factor-1alpha gene polymorphisms and increased susceptibility to oral cancer. Oral Oncol. 2009;45:e222–6.PubMedCrossRef

28.

Ling TS, Shi RH, Zhang GX, Zhu H, Yu LZ, Ding XF. Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma. Chin J Dig Dis. 2005;6:155–8.PubMedCrossRef

29.

Chau CH, Permenter MG, Steinberg SM, Retter AS, Dahut WL, Price DK, et al. Polymorphism in the hypoxia-inducible factor 1alpha gene may confer susceptibility to androgen-independent prostate cancer. Cancer Biol Ther. 2005;4:1222–5.PubMedCrossRef

30.

Foley R, Marignol L, Thomas AZ, Cullen IM, Perry AS, Tewari P, et al. The HIF-1alpha C1772T polymorphism may be associated with susceptibility to clinically localised prostate cancer but not with elevated expression of hypoxic biomarkers. Cancer Biol Ther. 2009;8:118–24.PubMedCrossRef

31.

Li H, Bubley GJ, Balk SP, Gaziano JM, Pollak M, Stampfer MJ, et al. Hypoxia-inducible factor-1alpha (HIF-1alpha) gene polymorphisms, circulating insulin-like growth factor binding protein (IGFBP)-3 levels and prostate cancer. Prostate. 2007;67:1354–61.PubMedCrossRef

32.

Li P, Cao Q, Shao PF, Cai HZ, Zhou H, Chen JW, et al. Genetic polymorphisms in HIF1a are associated with prostate cancer risk in a chinese population. Asian Journal of Andrology. 2012;14:864–9.PubMedCrossRef

33.

Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst. 1959;22:719–48.PubMed

34.

DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177–88.PubMedCrossRef

35.

Moher D, Liberati A, Tetzlaff J, Altman DG, Group P. Preferred reporting items for systematic reviews and meta-analyses: the prisma statement. PLoS Med. 2009;6:e1000097.PubMedCentralPubMedCrossRef

36.

Nadaoka J, Horikawa Y, Saito M, Kumazawa T, Inoue T, Narita S, et al. Prognostic significance of HIF-1 alpha polymorphisms in transitional cell carcinoma of the bladder. Int J Cancer. 2008;122:1297–302.PubMedCrossRef

37.

Kang MJ, Jung SA, Jung JM, Kim SE, Jung HK, Kim TH, et al. Associations between single nucleotide polymorphisms of MMP2, VEGF, and HIF1a genes and the risk of developing colorectal cancer. Anticancer Res. 2011;31:575–84.PubMed

38.

Alves LR, Fraga CAC, Oliveira MVM, Sousa AA, Jorge ASB, Marques-Silva L, Santos SHS, Jones KM, De Paula AMB, Guimaraes ALS: High HIF-1(alpha) expression genotypes increase odds ratio of oral cancer. Head and Neck Oncology 2012;4

39.

Chai D, Chen YL, Zheng A, Liu YY, Chu YX, Han L. Relationship between polymorphism of hypoxia inducible factor-1alpha and cervical cancer in Han population in Sichuan Province of China. Sichuan Da Xue Xue Bao Yi Xue Ban. 2010;41:674–7.PubMed

40.

Clifford SC, Astuti D, Hooper L, Maxwell PH, Ratcliffe PJ, Maher ER. The pVHL-associated SCF ubiquitin ligase complex: molecular genetic analysis of elongin b and c, RBX1 and HIF-1alpha in renal cell carcinoma. Oncogene. 2001;20:5067–74.PubMedCrossRef

41.

Fransen K, Fenech M, Fredrikson M, Dabrosin C, Soderkvist P. Association between ulcerative growth and hypoxia inducible factor-1alpha polymorphisms in colorectal cancer patients. Mol Carcinog. 2006;45:833–40.PubMedCrossRef

42.

Horree N, Groot AJ, van Hattem WA, Heintz AP, Vooijs M, van Diest PJ. HIF-1a gene mutations associated with higher microvessel density in endometrial carcinomas. Histopathology. 2008;52:637–9.PubMedCrossRef

43.

Kim HO, Jo YH, Lee J, Lee SS, Yoon KS. The C1772T genetic polymorphism in human HIF-1alpha gene associates with expression of HIF-1alpha protein in breast cancer. Oncol Rep. 2008;20:1181–7.PubMed

44.

Kim YH, Park IA, Park WY, Kim JW, Kim SC, Park NH, et al. Hypoxia-inducible factor 1(alpha) polymorphisms and early-stage cervical cancer. International Journal of Gynecological Cancer. 2011;21:2–7.PubMedCrossRef

45.

Knechtel G, Szkandera J, Stotz M, Hofmann G, Langsenlehner U, Krippl P, et al. Single nucleotide polymorphisms in the hypoxia-inducible factor-1 gene and colorectal cancer risk. Mol Carcinog. 2010;49:805–9.PubMed

46.

Konac E, Dogan I, Onen HI, Yurdakul AS, Ozturk C, Varol A, et al. Genetic variations in the hypoxia-inducible factor-1alpha gene and lung cancer. Exp Biol Med (Maywood). 2009;234:1109–16.CrossRef

47.

Kuo WH, Shih CM, Lin CW, Cheng WE, Chen SC, Chen W, et al. Association of hypoxia inducible factor-1alpha polymorphisms with susceptibility to non-small-cell lung cancer. Transl Res. 2012;159:42–50.PubMedCrossRef

48.

Kuwai T, Kitadai Y, Tanaka S, Kuroda T, Ochiumi T, Matsumura S, et al. Single nucleotide polymorphism in the hypoxia-inducible factor-1alpha gene in colorectal carcinoma. Oncol Rep. 2004;12:1033–7.PubMed

49.

Lee JY, Choi JY, Lee KM, Park SK, Han SH, Noh DY, et al. Rare variant of hypoxia-inducible factor-1alpha (HIF-1a) and breast cancer risk in Korean women. Clin Chim Acta. 2008;389:167–70.PubMedCrossRef

50.

Li K, Zhang Y, Dan Z, Wang Y, Ren ZC. Association of the hypoxia inducible factor-1alpha gene polymorphisms with gastric cancer in Tibetans. Biochem Genet. 2009;47:625–34.PubMedCrossRef

51.

Mera-Menendez F, Hinojar-Gutierrez A, Guijarro Rojas M, de Gregorio JG, Mera-Menendez E, Sanchez JJ, Quintanilla M, Cerezo L, Gamallo C: Polymorphisms in HIF-1alpha affect presence of lymph node metastasis and can influence tumor size in squamous-cell carcinoma of the glottic larynx. Clinical and Translational Oncology 2012:1–6.

52.

Morris MR, Hughes DJ, Tian YM, Ricketts CJ, Lau KW, Gentle D, et al. Mutation analysis of hypoxia-inducible factors HIF1a and HIF2a in renal cell carcinoma. Anticancer Res. 2009;29:4337–43.PubMed

53.

Munoz-Guerra MF, Fernandez-Contreras ME, Moreno AL, Martin ID, Herraez B, Gamallo C. Polymorphisms in the hypoxia inducible factor 1-alpha and the impact on the prognosis of early stages of oral cancer. Ann Surg Oncol. 2009;16:2351–8.PubMedCrossRef

54.

Naidu R, Har YC, Taib NA. Associations between hypoxia-inducible factor-1alpha (HIF-1alpha) gene polymorphisms and risk of developing breast cancer. Neoplasma. 2009;56:441–7.PubMedCrossRef

55.

Ollerenshaw M, Page T, Hammonds J, Demaine A. Polymorphisms in the hypoxia inducible factor-1alpha gene (HIF1a) are associated with the renal cell carcinoma phenotype. Cancer Genet Cytogenet. 2004;153:122–6.PubMedCrossRef

56.

Orr-Urtreger A, Bar-Shira A, Matzkin H, Mabjeesh NJ. The homozygous p582s mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associated with increased risk for prostate cancer. Prostate. 2007;67:8–13.PubMedCrossRef

57.

Putra AC, Tanimoto K, Arifin M, Hiyama K. Hypoxia-inducible factor-1alpha polymorphisms are associated with genetic aberrations in lung cancer. Respirology. 2011;16:796–802.PubMedCrossRef

58.

Qin C, Cao Q, Ju X, Wang M, Meng X, Zhu J, et al. The polymorphisms in the VHL and HIF1a genes are associated with the prognosis but not the development of renal cell carcinoma. Ann Oncol. 2012;23:981–9.PubMedCrossRef

59.

Ruiz-Tovar J, Fernandez-Contreras ME, Martin-Perez E, Gamallo C. Association of thymidylate synthase and hypoxia inducible factor-1alpha DNA polymorphisms with pancreatic cancer. Tumori. 2012;98:364–9.PubMed

60.

Shieh TM, Chang KW, Tu HF, Shih YH, Ko SY, Chen YC, et al. Association between the polymorphisms in exon 12 of hypoxia-inducible factor-1alpha and the clinicopathological features of oral squamous cell carcinoma. Oral Oncol. 2010;46:e47–53.PubMedCrossRef

61.

Zagouri F, Sergentanis TN, Gazouli M, Tsigginou A, Dimitrakakis C, Papaspyrou I, et al. HSP90, HSPa8, HIF-1 alpha and HSP70-2 polymorphisms in breast cancer: a case–control study. Mol Biol Rep. 2012;39:10873–9.PubMedCrossRef

62.

Frank B, Hoffmeister M, Klopp N, Illig T, Chang-Claude J, Brenner H. Single nucleotide polymorphisms in WNT signaling and cell death pathway genes and susceptibility to colorectal cancer. Carcinogenesis. 2010;31:1381–6.PubMedCrossRef

63.

Griffiths EA, Pritchard SA, Valentine HR, Whitchelo N, Bishop PW, Ebert MP, et al. Hypoxia-inducible factor-1alpha expression in the gastric carcinogenesis sequence and its prognostic role in gastric and gastro-oesophageal adenocarcinomas. Br J Cancer. 2007;96:95–103.PubMedCentralPubMedCrossRef

64.

Zhong H, Semenza GL, Simons JW, De Marzo AM. Up-regulation of hypoxia-inducible factor 1alpha is an early event in prostate carcinogenesis. Cancer Detect Prev. 2004;28:88–93.PubMedCrossRef

65.

Horree N, van Diest PJ, van der Groep P, Sie-Go DM, Heintz AP. Hypoxia and angiogenesis in endometrioid endometrial carcinogenesis. Cell Oncol. 2007;29:219–27.PubMed

66.

Simiantonaki N, Taxeidis M, Jayasinghe C, Kurzik-Dumke U, Kirkpatrick CJ. Hypoxia-inducible factor 1 alpha expression increases during colorectal carcinogenesis and tumor progression. BMC Cancer. 2008;8:320.PubMedCentralPubMedCrossRef

67.

Nys K, Maes H, Dudek AM, Agostinis P. Uncovering the role of hypoxia inducible factor-1alpha in skin carcinogenesis. Biochim Biophys Acta. 1816;2011:1–12.

68.

Koukourakis MI, Papazoglou D, Giatromanolaki A, Panagopoulos I, Maltezos E, Harris AL, et al. C2028T polymorphism in exon 12 and dinucleotide repeat polymorphism in intron 13 of the HIF-1alpha gene define HIF-1alpha protein expression in non-small cell lung cancer. Lung Cancer. 2006;53:257–62.PubMedCrossRef

69.

Zhao T, Lv J, Zhao J, Nzekebaloudou M. Hypoxia-inducible factor-1alpha gene polymorphisms and cancer risk: a meta-analysis. J Exp Clin Cancer Res. 2009;28:159.PubMedCrossRef

70.

Hu X, Lin S, Zheng J, Guo R, Li H, You C: Clinicopathological significance of hypoxia-inducible factor-1 alpha polymorphisms in cancers: evidence from a meta-analysis. Tumour Biol 2013

Titel: The association between HIF-1α polymorphism and cancer risk: a systematic review and meta-analysis
verfasst von: Xin Hu
Yuan Fang
Jun Zheng
Yazhou He
Xin Zan
Sen Lin
Xi Li
Hao Li
Chao You
Publikationsdatum: 01.02.2014
Verlag: Springer Netherlands
Erschienen in: Tumor Biology / Ausgabe 2/2014
Print ISSN: 1010-4283
Elektronische ISSN: 1423-0380
DOI: https://doi.org/10.1007/s13277-013-1160-x

Springer Medizin

The association between HIF-1α polymorphism and cancer risk: a systematic review and meta-analysis

Abstract

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Springer Medizin

Abstract

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