Association of transforming growth factor-β1 gene polymorphisms with genetic susceptibility to nasopharyngeal carcinoma

Background: Nasopharyngeal cancer (NPC) is multifactorial, and the genetic background may be a crucial etiologic factor. Transforming growth factor-beta 1 (TGF-beta 1) is a multifunctional cytokine, it promotes tumor growth and metastasis in later stages of phase of cancer development. Variations in the DNA sequence in the TGF-beta 1 gene may lead to altered TGF beta 1 production and/or activity, and so this can modulate an individual's susceptibility to NPC. To test this hypothesis, we investigated the association of the TGF-beta 1 polymorphisms and their haplotypes with the risk of NPC in a Chinese population. Methods: We analyzed 2 single nucleotide polymorphisms (SNPs) of TGF beta 1 gene promoter - 509C/T and 869T/C (Leu10Pro) at exon one in 108 patients with NPC and 120 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy. Results: There were significant differences in the genotype and allele distribution of - 509C/T and 869T/C (Leu10Pro) polymorphisms of the TGF beta 1 gene among cases and controls. The - 509T and 869C alleles carriers were associated with a significantly increased risk of NPC as compared with the non-carriers (OR=1.64, 95% CI, 1.13-2.39, P=0.009 and OR=1.70, 95% CI, 1.17-2.46, P=0.006, respectively). Consistent with the results of the genotyping analyses, the - 509T/869C haplotype was associated with a significantly increased risk of NPC as compared with the - 509C/869T haplotype (OR 1.68; 95% CI, 1.14-2.48; P=0.009). Conclusion: TGF beta 1 - 509C/T and 869T/C polymorphisms, and their haplotypes are significantly associated with the risk of NPC. Our data suggests that TGF-beta 1 - 509C/T and 869T/C polymorphisms could be used as genetic susceptibility markers of the NPC. (c) 2007 Elsevier B.V. All rights reserved.