title: Functional genetic variants of TGF-β1 and risk of tobacco-related oral carcinoma in high-risk Asian Indians.
abstract: Transforming growth factor (TGF)-β1, the most abundant isoform of TGF-β have been implicated in various stages of carcinogenesis such as epithelial to mesenchymal transition, enhanced expression of metalloproteases, down-regulation of cellular adhesion molecule, increased tumor motility and angiogenesis as well as local and systemic immunosuppression leading to a more aggressive and metastatic behavior. We assessed the association of TGF-β1 functional genetic polymorphisms at codon 10 (869 T>C) and 25 (915 G>C) of exon 1 in 140 patients with tobacco-related oral squamous cell carcinoma (OSCC) and 120 normal subjects by PCR-RFLP. The frequency of 869 CC genotype and C allele were significantly higher in patients as compared to controls (P(c), 0.024 and 0.0004, respectively) while no significant difference was observed in the frequency of 915 CC genotype and C allele. In logistic regression analysis CC genotype (OR, 3.87; 95% CI, 1.78-8.41) and C allele (OR, 2.20; 95% CI 1.51-3.20) appeared as susceptible while TT genotype and T allele as protective. In addition C(869)-C(915) haplotype with OR of 2.48 at 95% CI, 1.51-4.06 significantly (P=0.0003) increased the risk of tobacco-related OSCC in Asian Indians.
authors.affiliation: Department of Biotechnology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India. gaur.poonam5@gmail.com
authors.forename: Poonam
authors.initials: P
authors.lastname: Gaur
authors.forename: Manasi
authors.initials: M
authors.lastname: Mittal
authors.forename: Bidhu Kalyan
authors.initials: BK
authors.lastname: Mohanti
authors.forename: Satya Narayan
authors.initials: SN
authors.lastname: Das
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000139:chemically induced / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000139:chemically induced / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult; D062789:Tobacco Products
chemical_list: D053773:Transforming Growth Factor beta1