All polymorphisms studied in this paper [PMID: 21113716] , total : 1 polymorphisms

Title : The functional class evaluated in rheumatoid arthritis is associated with soluble TGF-beta1 serum levels but not with G915C (Arg25Pro) TGF-beta1 polymorphism.

Abstract : The influence of genetic factors in rheumatoid arthritis (RA) has been described, including several cytokine genes such as transforming growth factor beta (TGF-beta) with regulatory effects on lymphocytes, dendritic cells, macrophages, chondrocytes, and osteoblasts, which are important in the RA pathogenesis. The G915C TGF-beta1 polymorphism has been associated with soluble TGF-beta1 (sTGF-beta) serum levels. Thus, we studied the association of G915C (Arg25Pro) TGF-beta1 polymorphism with sTGF-beta1 serum levels in RA. We enrolled 120 RA patients and 120 control subjects (CS). The G915C TGF-beta1 polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and sTGF-beta1 serum levels were quantified using an ELISA kit. The genotype frequency of G915C TGF-beta1 polymorphism in RA and CS was G/G (91.7%), G/C (8.3%), C/C (0%) and G/G (85.8%), G/C (14.2%), C/C (0%), respectively, without significant differences. Moreover, the G/G TGF-beta1 genotype carriers presented the highest disability index evaluated for the Spanish HAQ-DI score (P < 0.001). In addition, the sTGF-beta1 serum levels were higher in RA (182.2 ng/mL) than CS (160.2 ng/mL), there was not significant difference. However, we found a positive correlation between the sTGF-beta1 serum levels and the functional class (r = 0.472, P = 0.023). In conclusion, the G915C (Arg25Pro) TGF-beta1 polymorphism is not associated with RA, but the sTGF-beta1 serum levels are related with the functional class in RA.

Author : Munoz-Valle JF,Torres-Carrillo NM,Guzman-Guzman IP,Torres-Carrillo N,Ruiz-Quezada SL,Palafox-Sanchez CA,Rangel-Villalobos H,Ramirez-Duenas MG,Parra-Rojas I,Fafutis-Morris M,Bastidas-Ramirez BE,Pereira-Suarez AL,

Source : Rheumatol Int. 2012 Feb;32(2):367-72. doi: 10.1007/s00296-010-1624-x. Epub 2010 Nov 27.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	NA	TGFB1	7040