RESEARCH ARTICLE Role of transforming growth factor-β1 -509 C/T promoter polymorphism in gastric cancer in south Indian population Amar Chand Bhayal & B. Prabhakar & K. Pandu Ranga Rao & Anitha Penchikala & Qamar Ayesha & A. Jyothy & Pratibha Nallari & A. Venkateshwari Received: 9 May 2011 /Accepted: 29 June 2011 # International Society of Oncology and BioMarkers (ISOBM) 2011 Abstract 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 amplifica- tion refractory mutation system polymerase chain reaction (ARMS-PCR) method followed by agarose gel electrophore- sis. 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 Tallele of TGF-β1 -509 C/T genotypes may be a risk factor of genetic susceptibility to gastric cancer in south Indian population. Keywords Transforming growth factor β1 . Gastric cancer . Polymorphism . Cytokine Introduction Gastric cancer (GC) is one of the most commonly diagnosed malignancies and remains a considerable public health problem worldwide. Gastric cancer is the fourth most frequent cancer and the second leading cause of death, causing nearly one million deaths worldwide per year [1]. The geographic distribution of stomach cancer is characterized by wide ethnic variations; with high-risk areas being East Asia (China, Japan), Eastern Europe, and parts of Central and South America [2]. Annual incidence rate of gastric cancer in India is 10.6/1,00,000 population. The incidence rate of GC is four times higher in Southern India compared with Northern India [3]. The etiology of GC is multifactorial, multigenetic, and multistage. Several factors are suspected to play a role in gastric carcinogenesis which includes diet, genetic factors, infectious agents, etc. [4]. Cytokines play an important role in the regulation of both humoral and cell-mediated immune responses. Promoter regions of some cytokine genes contain polymorphisms that may directly influence the expression profiles. These promoter polymorphisms may lead to either high- or low-level production of the given cytokines and cause inter-individual differences in anti-tumor A. C. Bhayal : A. Jyothy : A. Venkateshwari (*) Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, India e-mail: venkateshwari@yahoo.com A. C. Bhayal e-mail: bhayal.ac@gmail.com A. Jyothy e-mail: jyothycell@rediffmail.com B. Prabhakar : K. P. R. Rao : A. Penchikala : Q. Ayesha Department of Gastroenterology, Osmania General Hospital, Hyderabad 500 001, India P. Nallari Department of Genetics, Osmania University, Hyderabad, India P. Nallari e-mail: prathinallari@yahoo.com Tumor Biol. DOI 10.1007/s13277-011-0208-z