Bhayal Amar Chand, Prabhakar B, Rao K Pandu Ranga, Penchikala Anitha, Ayesha Qamar, Jyothy A, Nallari Pratibha, Venkateshwari A
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, 500 016, India.
Tumour Biol. 2011 Oct;32(5):1049-53. doi: 10.1007/s13277-011-0208-z. Epub 2011 Jul 15.
Gastric cancer is a multifactorial disease with the involvement of both genetic and environmental risk factors. Genetic variation in genes encoding cytokines and their receptors determine the intensity of the inflammatory response, which may contribute to individual differences in the outcome and severity of the disease. Transforming growth factor (TGF-β) signaling pathway plays an important role in the genesis and progression of tumors through regulating cell proliferation and differentiation. A hospital-based case-control study was conducted to investigate whether TGF-β1 -509 C/T polymorphism can modify the risk of gastric cancer. Seventy endoscopically and histopathologically confirmed gastric cancer patients and 100 age and sex-matched healthy controls were enrolled in the case-control study. TGF-β1 -509 C/T gene polymorphism was carried out by amplification refractory mutation system polymerase chain reaction (ARMS-PCR) method followed by agarose gel electrophoresis. Statistical analysis was applied to test for the significance of the results. The distribution of TGF-β1 genotypes at -509 C/T were CC 37.14%, CT 50%, and TT 12.86% in gastric cancer patients and CC 52%, CT 42%, and TT 6% in control subjects. The allelic frequencies of C and T were 0.621 and 0.379 in gastric cancer patients and 0.73 and 0.27 in control subjects, respectively. Our study imply that T allele of TGF-β1 -509 C/T genotypes may be a risk factor of genetic susceptibility to gastric cancer in south Indian population.
胃癌是一种多因素疾病，涉及遗传和环境风险因素。编码细胞因子及其受体的基因中的遗传变异决定了炎症反应的强度，这可能导致疾病结局和严重程度的个体差异。转化生长因子（TGF-β）信号通路通过调节细胞增殖和分化在肿瘤的发生和发展中起重要作用。一项基于医院的病例对照研究旨在调查TGF-β1 -509 C/T多态性是否会改变胃癌风险。该病例对照研究纳入了70例经内镜和组织病理学确诊的胃癌患者以及100例年龄和性别匹配的健康对照。采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）方法，随后进行琼脂糖凝胶电泳，对TGF-β1 -509 C/T基因多态性进行检测。应用统计学分析来检验结果的显著性。在胃癌患者中，TGF-β1 -509 C/T位点的基因型分布为CC占37.14%，CT占50%，TT占12.86%；在对照人群中，CC占52%，CT占42%，TT占6%。胃癌患者中C和T等位基因频率分别为0.621和0.379，对照人群中分别为0.73和0.27。我们的研究表明，在印度南部人群中，TGF-β1 -509 C/T基因型的T等位基因可能是胃癌遗传易感性的一个风险因素。
