Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
권호 표지
DOI QR코드

DOI QR Code

No Association of Hypoxia Inducible Factor-1α Gene Polymorphisms with Breast Cancer in North-West Indians

  • Sharma, Sarika (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) ;
  • Kapahi, Ruhi (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) ;
  • Sambyal, Vasudha (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) ;
  • Guleria, Kamlesh (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) ;
  • Manjari, Mridu (Department of Pathology, Sri Guru Ram Das Institute of Medical Sciences and Research) ;
  • Sudan, Meena (Department of Radiotherapy, Sri Guru Ram Das Institute of Medical Sciences and Research) ;
  • Uppal, Manjit Singh (Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research) ;
  • Singh, Neeti Rajan (Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research)
  • Published : 2014.12.18
Download PDF
⟨ Previous Next ⟩

Abstract

Background: Hypoxia inducible factor-1 alpha (HIF-$1{\alpha}$) is the key regulator of cellular responses to hypoxia and plays a central role in tumour growth. Presence of Single nucleotide polymorphisms (SNPs) in the critical regulatory domains of HIF-$1{\alpha}$ may result in the overexpression of the protein and subsequent changes in the expression of the downstream target genes. The aim of study was to investigate the association of three SNPs (g.C111A, g.C1772T and g.G1790A) of HIF-$1{\alpha}$ with the risk of breast cancer in North Indian sporadic breast cancer patients. Materials and Methods: A total of 400 subjects, including 200 healthy controls and 200 patients with breast cancer were recruited in this study. Genotypes were determined using polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method. Results: The CC and CA genotype frequency of HIF-$1{\alpha}$ g.C111A polymorphism was 100 vs 99% and 0 vs 1% in breast cancer patients and healthy controls respectively. The frequencies of CC, CT and TT genotype of g.C1772T polymorphism were 76 vs 74.5%, 19 vs 21% and 5 vs 4.5% in breast cancer patients and control individuals respectively. There was no significant difference in genotype and allele frequencies of HIF-$1{\alpha}$ g.C1772T polymorphism between cases and control individuals (p>0.05). For g.G1790A genotypes, all patients and controls had only GG genotype. Conclusions: The three HIF-$1{\alpha}$ polymorphisms (g.C111A, g.C1772T and g.G1790A) are not associated with breast cancer risk in North-West Indian patients.

Keywords

References

  1. Adeli K, Ogbonna G (1990). Rapid purification of human DNA from whole blood for potential application in clinical chemistry laboratories. Clin Chem, 36, 261-4.
  2. Apaydin I, Konac E, Onen HI, et al (2008). Single nucleotide polymorphisms in the hypoxia- inducible factor-$1{\alpha}$ (HIF- $1{\alpha}$) gene in human sporadic breast cancer. Arch Med Res, 39, 338-45. https://doi.org/10.1016/j.arcmed.2007.11.012
  3. Bhasin MK, Walter H, Danker-Hopfe H, Kamla-Raj Publishers; New Delhi: 1992. The distribution of genetical, morphological and behavioral traits among the peoples on Indian region.
  4. Bos R, Zhong H, Hanrahan CF, et al (2001). Levels of hypoxiainducible factor- $1{\alpha}$ during breast carcinogenesis. J Natl Cancer Inst, 93, 309-14. https://doi.org/10.1093/jnci/93.4.309
  5. Carrero P, Okamoto K, Coumalleau P, et al (2000). Redoxregulated recruitment of the transcriptional coactivators CREB-binding protein and SRC-1 to hypoxia-inducible factor $1{\alpha}$. Mol Cell Biol, 20, 402-15. https://doi.org/10.1128/MCB.20.1.402-415.2000
  6. Chau CH, Permenter MG, Steinberg SM, et al (2005). Polymorphism in the hypoxia-inducible factor 1 alpha gene may confer susceptibility to androgen-independent prostate cancer. Cancer Biol Ther, 4, 1222-5.
  7. Foley R, Marignol L, Thomas AZ, et al (2009). The HIF-$1{\alpha}$ C1772T polymorphism may be associated with susceptibility to clinically localized prostate cancer but not with elevated expression of hypoxic biomarkers. Cancer Biol Ther, 8, 118-24. https://doi.org/10.4161/cbt.8.2.7086
  8. Fransen K, Fenech M, Fredrikson M, Dabrosin C, Soderkvist P (2006). Association between ulcerative growth and hypoxia inducible Factor-1 alpha polymorphisms in colorectal cancer Patients. Mol Carcinog, 45, 833-40. https://doi.org/10.1002/mc.20209
  9. Hanahan D, Weinberg RA (2011). Hallmarks of cancer: the next generation. Cell, 144, 646-74. https://doi.org/10.1016/j.cell.2011.02.013
  10. He P, Han Q, Liu J, et al (2013). The association between Hypoxia-Inducible Factor-$1{\alpha}$ gene C1772T polymorphism and cancer risk: A Meta-analysis of 37 case-control studies. PLoS One, 8, 83441. https://doi.org/10.1371/journal.pone.0083441
  11. Hill RP, Marie-Egyptienne DT, Hedley DW (2009). Cancer stem cells, hypoxia and metastasis. Semin Radia Oncol, 19, 106-11. https://doi.org/10.1016/j.semradonc.2008.12.002
  12. Hsiao PC, Chen MK, Su SC, et al (2010). Hypoxia inducible factor-1alpha gene polymorphism G1790A and its interaction with tobacco and alcohol consumptions increase susceptibility to hepatocellular carcinoma. J Surg Oncol, 102, 163-9. https://doi.org/10.1002/jso.21539
  13. Hu X, Fang Y, Zheng J, et al (2014). The association between HIF-$1{\alpha}$ polymorphism and cancer risk: a systematic review and meta-analysis. Tumour Biol, 35, 903-16. https://doi.org/10.1007/s13277-013-1160-x
  14. Jiang BH, Rue E, Wang GL, Roe R, Semenza GL (1996). Dimerization, DNA binding, and transactivation properties of hypoxia-inducible factor 1. J Biol Chem, 271, 17771-8. https://doi.org/10.1074/jbc.271.30.17771
  15. Kim HO, Jo YH, Lee J, Lee SS, Yoon KS (2008). The C1772T genetic polymorphism in human HIF-$1{\alpha}$ gene associates with expression of HIF-$1{\alpha}$ protein in breast cancer. Oncol Rep, 20, 1181-87.
  16. Konac E, Onen HI, Metindir J, et al (2007). An investigation of relationships between hypoxia-inducible factor-$1{\alpha}$ gene polymorphisms and ovarian, cervical and endometrial cancers. Cancer Detect Prev, 31, 102-9. https://doi.org/10.1016/j.cdp.2007.01.001
  17. Lee JY, Choi JY, Lee KM, et al (2008). Rare variant of hypoxiainducible factor-$1{\alpha}$ (HIF-1A) and breast cancer risk in Korean women. Clin Chim Acta, 389, 167-70. https://doi.org/10.1016/j.cca.2007.12.005
  18. Li D, Liu J, Zhang W, et al (2013). Association between HIF1A P582S and A588T polymorphisms and the risk of urinary cancers: a meta-analysis. PLoS One, 8, 63445. https://doi.org/10.1371/journal.pone.0063445
  19. Li K, Zhang Y, Dan Z, Wang Y, Ren ZC (2009). Association of the Hypoxia Inducible Factor-$1{\alpha}$ gene polymorphisms with gastric cancer in Tibetans. Biochem Genet, 47, 625-34. https://doi.org/10.1007/s10528-009-9254-2
  20. Ling TS, Shi RS, Zhang GX, et al (2005). Common single nucleotide polymorphism of hypoxia inducible factor-$1{\alpha}$ and its impact on the clinicopathological features of esophageal squamous cell carcinoma. Chin J Dig Dis, 6, 155-8. https://doi.org/10.1111/j.1443-9573.2005.00223.x
  21. Medeiros R, Vasconcelos A, Costa S, et al (2003). Steroid hormone genotypes ARStuI and ER325 are linked to the progression of human prostate cancer. Cancer Genet Cytogenet, 141, 91-6. https://doi.org/10.1016/S0165-4608(02)00660-X
  22. Medeiros R, Vasconcelos A, Costa S, et al (2004). Linkage of angiotensin I-converting enzyme gene insertion/deletion polymorphism to the progression of human prostate cancer. J Pathol, 202, 330-5. https://doi.org/10.1002/path.1529
  23. Munoz-Guerra MF, Fernandez-Contreras ME, Moreno AL, et al (2009). Polymorphisms in the hypoxia inducible factor $1-{\alpha}$ and the impact on the prognosis of early stages of oral cancer. Ann Surg Oncol, 16, 2351-58. https://doi.org/10.1245/s10434-009-0503-8
  24. Naidu R, Har YC, Taib NA (2009). Associations between hypoxia-inducible factor-$1{\alpha}$ (HIF-$1{\alpha}$) gene polymorphisms and risk of developing breast cancer. Neoplasma, 56, 441-7. https://doi.org/10.4149/neo_2009_05_441
  25. Newcomb EW, Zagzag D (2009). HIF-1 regulation of chemokine receptor expression. chemokine receptors in cancer. in 'cancer drug discovery and development', eds, Fulton AM. Springer link pp 47-61.
  26. Ollerenshaw M, Page T, Hammonds J, Demaine A (2004). Polymorphisms in the hypoxia inducible factor-1 alpha gene (HIF1A) are associated with the renal cell carcinoma phenotype. Cancer Genet Cytogenet, 153, 122-6. https://doi.org/10.1016/j.cancergencyto.2004.01.014
  27. Pinto D, Vasconcelos A, Costa S, et al (2004). HER2 polymorphism and breast cancer risk in Portugal. Eur J Cancer Prev, 13, 177-81. https://doi.org/10.1097/01.cej.0000130015.91525.c7
  28. Poon E, Harris AL, Ashcroft (2009). Targeting the hypoxiainducible factor (HIF) pathway in cancer. Expert Rev Mol Med, 11, 26. https://doi.org/10.1017/S1462399409001173
  29. Pouyssegur J, Dayan F, Mazure NM (2006). Hypoxia signalling in cancer and approaches to enforce tumour regression. Nature, 441, 437-43. https://doi.org/10.1038/nature04871
  30. Rankin EB, Giaccia AJ (2008). The role of hypoxia-inducible factors in tumorigenesis. Cell Death Differ, 15, 678-85. https://doi.org/10.1038/cdd.2008.21
  31. Ribeiro AL, Correia J, Ribeiro V (2009). Ethnic variability of HIF-1alpha polymorphisms. Cancer Biomark, 5, 273-7.
  32. Ruan K, Song G, Ouyang G (2009). Role of hypoxia in the hallmarks of human cancer. J Cell Biochem, 107: 1053-62. https://doi.org/10.1002/jcb.22214
  33. Santos AM, Sousa H, Pinto D, et al (2006). Linking TP53 codon 72 and P21 nt590 genotypes to the development of cervical and ovarian cancer. Eur J Cancer, 42, 958-63. https://doi.org/10.1016/j.ejca.2006.01.015
  34. Schoppmann SF, Horvat R, Birner P (2002). Lymphatic vessels and lymphangiogenesis in female cancer: mechanisms, clinical impact and possible implications for antilymphangiogenic therapies (Review). Oncol Rep, 9, 455-60.
  35. Semenza GL (2003). Targeting HIF-1 for cancer therapy. Nat Rev Cancer, 3, 721-32. https://doi.org/10.1038/nrc1187
  36. Semenza GL, Wang GL (1992). A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation. Mol Cell Biol, 12, 5447-54.
  37. Smaldone MC, Maranchie JK (2009). Clinical implications of hypoxia inducible factor in renal cell carcinoma. Urol Oncol, 27, 238-45. https://doi.org/10.1016/j.urolonc.2007.12.001
  38. Sorlie T, Perou CM, Tibshirani R, et al (2001). Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci USA, 98, 10869-74. https://doi.org/10.1073/pnas.191367098
  39. Talks K L, Turley H, Gatter KC, et al (2000). The expression and distribution of the hypoxia-inducible factors HIF-1alpha and HIF-2 alpha in normal human tissues, cancers, and tumor-associated macrophages. Am J Pathol, 157, 411-21. https://doi.org/10.1016/S0002-9440(10)64554-3
  40. Tanimoto K, Yoshiga K, Eguchi H, et al (2003). Hypoxiainducible factor-1 alpha polymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis, 24, 1779-83. https://doi.org/10.1093/carcin/bgg132
  41. Vainrib M, Golan M, Amir S, et al (2012). HIF1A C1772T polymorphism leads to HIF-$1{\alpha}$ mRNA overexpression in prostate cancer patients. Cancer Biol Ther, 13, 720-6. https://doi.org/10.4161/cbt.20554
  42. Wang X, Liu Y, Ren H, et al (2011). Polymorphisms in the hypoxia-inducible factor-$1{\alpha}$ gene confer susceptibility to pancreatic cancer. Cancer Biol Ther, 12, 383-7. https://doi.org/10.4161/cbt.12.5.15982
  43. Wenger RH, Stiehl DP, Camenisch G (2005). Integration of oxygen signaling at the consensus HRE. Sci STKE, re12.
  44. Wu G, Yan WF, Zhu YZ, Sun PC (2014). Hypoxia-inducible factor-$1{\alpha}$ (HIF-$1{\alpha}$) C1772T polymorphism significantly contributes to the risk of malignancy from a meta-analysis. Tumour Biol, 35, 4113-22. https://doi.org/10.1007/s13277-013-1538-9
  45. Xu G, Wang M, Xie W, Bai X (2011). Hypoxia-inducible factor-1 alpha C1772T gene polymorphism and glioma risk: a hospital-based case-control study from China. Genet Test Mol Biomarkers, 15, 461-4. https://doi.org/10.1089/gtmb.2010.0265
  46. Zagouri F, Sergentanis TN, Gazouli M, et al (2012). HSP90, HSPA8, HIF-1 alpha and HSP70-2 polymorphisms in breast cancer: a case-control study. Mol Biol Rep, 39, 10873-9. https://doi.org/10.1007/s11033-012-1984-2
  47. Zhang Q, Chen Y, Zhang B, et al (2013). Hypoxia-inducible factor-$1{\alpha}$ polymorphisms and risk of cancer metastasis: a meta-analysis. PLoS One, 8, 70961. https://doi.org/10.1371/journal.pone.0070961
  48. Zhong H, De Marzo AM, Laughner E, et al (1999) Overexpression of hypoxia-inducible factor 1 alpha in common human cancers and their metastases. Cancer Res, 59, 5830-35.
  49. Zhou Y, Lin L, Wang Y, et al (2014). The association between hypoxia-inducible factor-$1{\alpha}$ gene G1790A polymorphism and cancer risk: a meta-analysis of 28 case-control studies. Cancer Cell Int, 14, 37. https://doi.org/10.1186/1475-2867-14-37

Cited by

  1. Neuroprotective mechanism of HIF-1α overexpression in the early stage of acute cerebral infarction in rats vol.12, pp.1, 2016, https://doi.org/10.3892/etm.2016.3288
  2. and breast cancer sutarsceptibility in Chinese women: a case–control study vol.38, pp.5, 2018, https://doi.org/10.1042/BSR20180950
  3. Does Hypoxia-Inducible Factor -1 α (HIF-1α) C1772T polymorphism predict short-term prognosis in patients with oral squamous cell carcinoma (OSCC)? vol.47, pp.7, 2018, https://doi.org/10.1111/jop.12718