Browse > Article
http://dx.doi.org/10.7314/APJCP.2014.15.22.9973

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)
Publication Information
Asian Pacific Journal of Cancer Prevention / v.15, no.22, 2014 , pp. 9973-9978 More about this Journal
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
Breast cancer; hypoxia; polymorphism; lack of relationship;
Citations & Related Records
연도 인용수 순위
  • Reference
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.   DOI
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.   DOI   ScienceOn
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.   DOI   ScienceOn
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.   DOI
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.   DOI
9 Hanahan D, Weinberg RA (2011). Hallmarks of cancer: the next generation. Cell, 144, 646-74.   DOI   ScienceOn
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.   DOI
11 Hill RP, Marie-Egyptienne DT, Hedley DW (2009). Cancer stem cells, hypoxia and metastasis. Semin Radia Oncol, 19, 106-11.   DOI
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.   DOI
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.   DOI
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.   DOI   ScienceOn
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 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.   DOI
17 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.   DOI
18 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.   DOI
19 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.   DOI
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.   DOI
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.   DOI
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.   DOI
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.   DOI
24 Pinto D, Vasconcelos A, Costa S, et al (2004). HER2 polymorphism and breast cancer risk in Portugal. Eur J Cancer Prev, 13, 177-81.   DOI
25 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.   DOI
26 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.
27 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.   DOI
28 Poon E, Harris AL, Ashcroft (2009). Targeting the hypoxiainducible factor (HIF) pathway in cancer. Expert Rev Mol Med, 11, 26.   DOI
29 Pouyssegur J, Dayan F, Mazure NM (2006). Hypoxia signalling in cancer and approaches to enforce tumour regression. Nature, 441, 437-43.   DOI   ScienceOn
30 Rankin EB, Giaccia AJ (2008). The role of hypoxia-inducible factors in tumorigenesis. Cell Death Differ, 15, 678-85.   DOI   ScienceOn
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.   DOI   ScienceOn
33 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.
34 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.   DOI
35 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.
36 Semenza GL (2003). Targeting HIF-1 for cancer therapy. Nat Rev Cancer, 3, 721-32.   DOI   ScienceOn
37 Smaldone MC, Maranchie JK (2009). Clinical implications of hypoxia inducible factor in renal cell carcinoma. Urol Oncol, 27, 238-45.   DOI
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.   DOI   ScienceOn
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.   DOI   ScienceOn
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.   DOI
41 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.   DOI
42 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.   DOI
43 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.   DOI
44 Wenger RH, Stiehl DP, Camenisch G (2005). Integration of oxygen signaling at the consensus HRE. Sci STKE, re12.
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.   DOI
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.   DOI
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.   DOI
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.   DOI