Single Nucleotide Polymorphisms in the Hypoxia-inducible Factor-1α (HIF-1α) Gene in Human Sporadic Breast Cancer

Apaydin, Isil; Konac, Ece; Onen, Hacer Ilke; Akbaba, Murat; Tekin, Ercüment; Ekmekçi, Abdullah

doi:10.1016/j.arcmed.2007.11.012

Cited by 46 publications

(41 citation statements)

References 36 publications

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“…Thus, no significant association of g.G1790A polymorphism was observed in the present study similar to previous reports for breast cancer (Apaydin et al, 2008;Kim et al, 2008;Naidu et al, 2009). Increased frequency of A allele has been reported in renal (Ollerenshaw et al, 2004), gastric (Li et al, 2009), oral (Munnoz-Guerra et al, 2009, hepatocellular (Hsiao et al, 2010) and pancreatic cancer .…”

Section: Discussionsupporting

confidence: 80%

“…In our study we did not found any association of c.C111A polymorphism with breast cancer risk as variant allele was completely absent in patients and only 0.5% of the controls carried the A allele. Similar to our findings, A allele was not previously observed in breast (Apaydin et al, 2008) and ovarian, cervical and endometrial cancer (Konac et al, 2007). However, Naidu et al observed a very low frequency of A allele in both breast cancer patients and controls (0.4 vs 0.2%) in Malaysian population (Naidu et al, 2009).…”

Section: Discussionsupporting

confidence: 79%

“…For g.C1772T polymorphism, we did not observe any significant differences in genotype and allele distribution between breast cancer patients and controls. Similar to the present study, no significant association of g.C1772T polymorphism was observed in the Turkish (Apaydin et al, 2008), Korean (Kim et al, 2008) and Greek (Zagouri et al, 2012) breast cancer patients. Significant association between Ser/Ser genotype at codon 582 and breast cancer risk has been reported among women with larger tumor size or without lymph node involvement .…”

Section: Discussionsupporting

confidence: 79%

“…Three polymorphisms (g.C111A, g.C1772T and g.G1790A) of HIF-1α were screened by PCR-RFLP method using the published primer sequences (Apaydin et al, 2008). A negative control without template DNA was included in each reaction to monitor contamination.…”

Section: Genomic Dna Extraction and Genotyping Of Hif-1α Polymorphismsmentioning

confidence: 99%

See 3 more Smart Citations

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

Sharma¹,

Kapahi²,

Sambyal³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Section: Discussionsupporting

confidence: 80%

Section: Discussionsupporting

confidence: 79%

Section: Discussionsupporting

confidence: 79%

Section: Genomic Dna Extraction and Genotyping Of Hif-1α Polymorphismsmentioning

confidence: 99%

See 2 more Smart Citations

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

Sharma¹,

Kapahi²,

Sambyal³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…It corresponds to a proline to serine amino acid substitution at codon 582. Many studies have investigated the influence of the C1772T polymorphism on breast cancer risk but the results have been remaining conflicting [12,13]. Therefore, the association between the C1772T polymorphisms and breast cancer requires further study.…”

Section: Introductionmentioning

confidence: 99%

The Association between the C1772T Genetic Polymorphism in Human HIF-1α Gene and Breast Cancer Risk: A Meta-analysis

Cheng¹,

Yuan²,

Liu³

et al. 2017

Chemotherapy

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Purpose: This meta-analysis aims to investigate the association between the C1772T genetic polymorphism in human HIF-1α gene and breast cancer risk. Methods:PubMed and Embase databases were searched till October 2013 to identify eligible studies. A total of 2143 cases and 2046 controls from 6 studies were included in this paper. Allelic and genotypic comparisons between cases and controls were evaluated. Subgroup analyses by ethnicity were also performed. Results Conclusions:This meta-analysis suggests that the C1772T polymorphism is significantly associated with breast cancer risk in Asia. However, we find that the C1772T polymorphism is not associated with breast cancer risk on the whole.

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HIF1A gene polymorphisms and human diseases: Graphical review of 97 association studies

Gladek

Ferdin

Horvat

et al. 2017

Genes Chromosomes & Cancer

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Hypoxia-inducible factors (HIFs) belong to a family of transcription factors (TF) responsive to a low O2 availability, which is often a characteristic feature of solid tumors. The alpha subunit of the HIF heterodimer is O2-sensitive, and once stabilized in hypoxia, it functions as a master regulator of various genes involved in hypoxia pathway. Changes in the HIF1A (hypoxia inducible factor 1, alpha subunit) nucleotide sequence or expression has been shown to be associated with development of several diseases. Due to increasing research interest in HIF1A gene a review of association studies was needed. We here reviewed published data on single nucleotide polymorphisms (SNPs) in HIF1A in various diseases; in total, 34 SNPs were tested for an association with 49 phenotypes, and the results were visualized using the Cytoscape software. Among all collected polymorphisms 16 SNPs showed significant associations with 40 different phenotypes, including six SNPs associated with 14 cancer types. Missense SNPs (rs11549465 and rs11549467) within the oxygen-dependent degradation domain were most frequently studied. The study provides a comprehensive tool for researchers working in this area and may contribute to more accurate disease diagnosis and identification of therapeutic targets.

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Single Nucleotide Polymorphisms in the Hypoxia-inducible Factor-1α (HIF-1α) Gene in Human Sporadic Breast Cancer

Cited by 46 publications

References 36 publications

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

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

The Association between the C1772T Genetic Polymorphism in Human HIF-1α Gene and Breast Cancer Risk: A Meta-analysis

HIF1A gene polymorphisms and human diseases: Graphical review of 97 association studies

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