Golmohammadi Rahim, Namazi Mohammad Javed, Going James J, Derakhshan Mohammad H
Department of Anatomy, Faculty of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran Department of Microbiology and Immunology, Faculty of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran Academic Unit of Medical Genetics and Pathology, Institute of Cancer Sciences, University of Glasgow, Glasgow, UK.
Medicine (Baltimore). 2017 Sep;96(37):e7933. doi: 10.1097/MD.0000000000007933.
Although few studies have suggested a carcinogenic role for polymorphism of F31I and V57I codons of AURKA gene in invasive ductal carcinoma, contradictory results from different populations mandates regional investigations. We aimed to determine polymorphisms of F31I and V57I codons of AURKA gene and their association with cancer prognosis in patients compared with controls in an eastern population of Iran.A case-control study was conducted on specimens from 100 patients and 100 age- and gender-matched controls. DNA was extracted and the codons F31I and V57I were amplified. The different genotypes were analyzed by PCR-RFLP and electrophoresis.In codon F31I, the frequency of Phe/Ile was 70% and 82% in patients and healthy controls respectively, whereas (Ile/Ile) was 30% in patients and 18% in healthy (P = .047). Analyzing V57I genotypes showed a higher homozygote Val/Val genotype in patients compared with controls (76% vs 68%), whereas the frequency of heterozygous Val/Ile genotype was lower in patients (17%) than controls (30%), yielding a marginal association between breast cancer and Val/Val genotype (P = .048). No association was observed between SNPs of either F31I or V57I genotypes and histological grades. However, there was a significant association between tumor stages and F31I genotype (P for trend = .003).This is the first report of F31I and V57I polymorphisms in AURKA gene in breast cancer in Iran. Determination of allelic polymorphism of those codons will help to understand background genetic predisposition and could have prognostic value in management of breast cancer in the target population.
尽管少数研究表明AURKA基因F31I和V57I密码子多态性在浸润性导管癌中具有致癌作用,但不同人群的矛盾结果需要进行区域性研究。我们旨在确定伊朗东部人群中AURKA基因F31I和V57I密码子的多态性及其与癌症患者预后的关联,并与对照组进行比较。
对100例患者和100例年龄及性别匹配的对照者的标本进行了病例对照研究。提取DNA并扩增F31I和V57I密码子。通过PCR-RFLP和电泳分析不同基因型。
在F31I密码子中,患者和健康对照者中苯丙氨酸/异亮氨酸的频率分别为70%和82%,而患者中异亮氨酸/异亮氨酸为30%,健康对照者中为18%(P = 0.047)。分析V57I基因型显示,患者中的纯合子缬氨酸/缬氨酸基因型高于对照组(76%对68%),而患者中杂合子缬氨酸/异亮氨酸基因型的频率(17%)低于对照组(30%),乳腺癌与缬氨酸/缬氨酸基因型之间存在边缘关联(P = 0.048)。F31I或V57I基因型的单核苷酸多态性与组织学分级之间未观察到关联。然而,肿瘤分期与F31I基因型之间存在显著关联(趋势P = 0.003)。
这是伊朗乳腺癌中AURKA基因F31I和V57I多态性的首次报道。确定这些密码子的等位基因多态性将有助于了解背景遗传易感性,并可能对目标人群的乳腺癌管理具有预后价值。