Association of Epidermal Growth Factor 61A>G, Survivin -31G>C, and EFNA1 -1732G>A Polymorphisms with Susceptibi
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ORIGINAL RESEARCH
Association of Epidermal Growth Factor 61A>G, Survivin -31G>C, and EFNA1 -1732G>A Polymorphisms with Susceptibility to Colorectal Cancer Fatemeh Asadian 1 & Mohammadamin Ghadyani 2 & Mohamad Hossein Antikchi 3 & Seyed Alireza Dastgheib 4 & Hossein Neamatzadeh 5,6 & Elnaz Sheikhpour 7 & Sahel Khajehnoori 5,6 & Seyed Sajjad Tabei 8 Accepted: 5 November 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Background Genetic polymorphisms play an important role in the development of colorectal cancer (CRC). Functional variants in the epidermal growth factor (EGF), survivin, and Ephrin A1 (EFNA1) genes have been previously reported to play a potential role in susceptibility to CRC, but these polymorphisms have not been well replicated. The aim of this study was to assess the association of the EGF 61A>G, Survivin -31G>C, and EFNA1 -1732G>A polymorphisms with the susceptibility to CRC in an Iranian population. Methods A total of 148 cases diagnosed with CRC and 160 healthy subjects were recruited. The EGF 61A>G, survivin -31G>C, and EFNA1 -1732G>A polymorphisms were genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results Our data revealed that the homozygous mutant genotype (CC: OR = 2.895, 95% CI = 1.092–7.673, p = 0.033) and mutant allele (C: OR = 1.629, 95% CI = 1.152–2.303, p = 0.006) of the survivin -31G>C were associated with an increased risk of CRC in the Iranian population. However, our results failed to show an association between the EGF 61A>G and EFNA1 1732G>A polymorphisms and CRC risk. Conclusion Our results revealed that the survivin -31G>C polymorphism might play an important role in development of CRC in Iranian population. However, no association of EGF 61A>G and EFNA1 -1732G>A polymorphisms with CRC risk was found. Keywords Colorectal cancer . Epidermal growth factor . Survivin . Ephrin A1 . Polymorphism . Association
Introduction Cancer is the second leading cause of death and major burden of disease globally [1–4]. Colorectal cancer (CRC) is one of the leading causes of cancer and cancer-related mortality globally [5–7]. Approximately worldwide 500, 000 patients a year
* Mohamad Hossein Antikchi [email protected] 1
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Department of Medical Laboratory Sciences, School of Paramedical Science, Shiraz University of Medical Sciences, Shiraz, Iran Department of Advanced Medical Sciences and Technologies, Islamic Azad University, Science and Research Branch, Tehran, Iran Department of Internal Medicine, Yazd Branch, Islamic Azad University, Yazd, Iran
will die due to colorectal malignancy. CRC accounts for 15% of worldwide malignancies and is the third cause of cancer in men and the second cause of cancer in women after breast cancer [8–11]. Although the etiology is not known, CRC is considered a multifactorial disease, and both genetic and environmental factors play an important role in the development
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Department of Medical Genetics, School of Medicine, Shiraz University of Medical Science
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