509C>T polymorphism in the TGF-β1 gene promoter is not associated with susceptibility to and progression of colorectal cancer in Chinese

• Published in: Colorectal disease Vol. 12; no. 11; pp. 1153 - 1158
• Main Authors: Qi, P., Ruan, C.-P., Wang, H., Zhou, F.-G., Zhao, Y.-P., Gu, X., Gao, C.-F.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.11.2010
• Subjects: Asian Continental Ancestry Group; Case-Control Studies; case-control study; China - epidemiology; Chromosomes, Human, 19-20 - genetics; Colorectal cancer; Colorectal Neoplasms - epidemiology; Colorectal Neoplasms - genetics; Disease Progression; Female; Genetic Predisposition to Disease; Genotype; Humans; individual susceptibility; Male; Middle Aged; Polymorphism, Single Nucleotide - genetics; Promoter Regions, Genetic - genetics; single-nucleotide polymorphism; Transforming Growth Factor beta1 - genetics; transforming growth factor-β1; China
• ISSN: 1462-8910; 1463-1318
• DOI: 10.1111/j.1463-1318.2009.02079.x

Aim  Colorectal cancer is common, accounting for nearly 10% of all cancers. Transforming growth factor‐β1 (TGF‐β1) is a pleiotropic cytokine that has been implicated in the pathogenesis of colorectal neoplasia. The most studied −509C>T polymorphism of TGF‐β1 gene has been associated with various kinds of cancer. This study investigated the association between this genetic variant and the risk and/or progression of colorectal cancer. Method  A case–control study was carried out of 150 colorectal cancer cases and 503 healthy controls. DNA was extracted from blood cell nuclear materials, and −509C>T polymorphism in the TGF‐β1 gene promoter was genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). Colorectal cancer tissues (n = 70) were obtained from the studied cases for measurement of TGF‐β1 mRNA expression levels. We also assessed the plasma TGF‐β1 levels of cases (n = 88) and healthy subjects (n = 120). Results  The TGF‐β1 producer genotype, −509TT, was not associated with an increased risk of colorectal cancer compared with other genotypes. Colorectal cancer patients especially those with a more aggressive disease behaviour were more frequently associated with C allele. Conclusion  The results suggest that TGF‐β1 −509C>T polymorphism is not associated with either an increased risk or progression of colorectal cancer.