%0 Journal Article
%T Association between TGFBR1*6A and osteosarcoma: A Chinese case-control study
%A Yun-Sheng Hu
%A Yong Pan
%A Wen-Hai Li
%A Yong Zhang
%A Jun Li
%A Bao-An Ma
%J BMC Cancer
%D 2010
%I BioMed Central
%R 10.1186/1471-2407-10-169
%X Our case-control study is based on 168 osteosarcoma patients and 168 age- and gender-matched controls. Blood samples were obtained and the TGFBR1*6A variant determined by PCR amplification and DNA sequencing. The odds ratio (OR) and 95% confidence interval (95% CI) for the TGFBR1*6A polymorphism were calculated by unconditional logistic regression, adjusted for both age and gender. Three models - dominant, additive and recessive - were used to analyze the contribution of the TGFBR1*6A variant to osteosarcoma susceptibility.Heterozygotic and homozygotic TGFBR1*6A variants represented 50.4% and 6.0% of the 168 cases, whereas the controls had 18. 5% and 1.3%, respectively. ORs for homozygosity and heterozygosity of the TGFBR1*6A allele were 4.6 [95% CI, 2.33-7.97] and 2.9 [95% CI, 1.59-5.34] in the additive model. There were significant increases in the TGFBR1*6A variants in osteosarcoma cases compared to control in all 3 models. Further analysis showed that TGFBR1*6A genotypes were not associated with gender, age, or tumor location. However, TGFBR1*6A was significantly associated with less metastasis.TGFBR1*6A, a dominant polymorphism of TGFBR1, is associated with increased susceptibility and metastasis spread of osteosarcoma.Osteosarcoma is the primary malignancy of bone that has peak occurrences in adolescence and after 50 years of age [1,2]. Although there have been many studies on its genetics, biology, pathology and clinical aspects, the etiology of osteosarcoma is not well understood. Screening large series of children with osteosarcoma showed that ~4% carried a constitutional germline mutation in p53, suggesting a genetic predisposition of osteosarcoma [3].TGF-¦Â signaling plays an important role in the development of tumors because it is a potent inhibitor of cell proliferation in most cell types [4,5]. Tumors frequently lose responsiveness to TGF-¦Â-mediated growth inhibition due to disruption in the TGF-¦Â signaling pathway [6]. TGF-¦Â regulates gene expression
%U http://www.biomedcentral.com/1471-2407/10/169