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Transforming Growth Factor Beta 1 Is a Novel Susceptibility Gene for Adolescent Idiopathic Scoliosis

Ryzhkov, Igor I., PhD*,†; Borzilov, Eugeny E., PhD; Churnosov, Mikhail I., MD; Ataman, Alexander V., MD, PhD§; Dedkov, Andrey A., PhD; Polonikov, Alexey V., MD, PhD

doi: 10.1097/BRS.0b013e31828de9e1
Basic Science

Study Design. A genetic association study of the transforming growth factor beta 1 (TGFB1) gene with adolescent idiopathic scoliosis (AIS) in Russian population.

Objective. To determine whether common genetic polymorphisms C-509T (rs1800469) and Arg25Pro (rs1800471) of the TGFB1 gene are associated with susceptibility to AIS.

Summary of Background Data. An importance of growth factors for the pathogenesis of AIS has been demonstrated by the findings of abnormal expression of these proteins in the spine and surrounding tissues in patients with AIS. However, no studies have been performed to investigate the relationship between genetic polymorphisms of the TGFB1 gene and susceptibility to AIS.

Methods. A total of 600 unrelated adolescents from Central Russia (Moscow) were recruited in this study, including 300 patients with AIS and 300 age- and sex-matched healthy adolescents. The polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism.

Results. The allele -509T and genotype -509TT of the TGFB1 gene were significantly associated with the increased risk of idiopathic scoliosis in both females and males (P < 0.01). Logistic regression analysis has revealed a recessive model of the genetic association between polymorphism C-509T of the TGFB1 gene and AIS. Moreover, we found sexual dimorphisms in the relationships of SNP C-509T of the TGFB1 gene with both the age of disease onset and curve severity: the polymorphism was found to determine both an early onset of scoliosis and the severity of curvature in females but not in males (P < 0.05).

Conclusion. This study, for the first time, highlights the importance of TGFB1 gene for the development and progress of AIS. We hypothesize several mechanisms by which the TGFB1 gene may contribute to spinal deformity in patients with AIS.

The present study was designed to determine whether common genetic polymorphisms of the TGFB1 gene are associated with susceptibility to adolescent idiopathic scoliosis. We found for the first time that polymorphism C-509T was associated with the risk of idiopathic scoliosis, age of disease onset and the curve severity.

*Central Adolescents Clinical Hospital of the Federal Medical Biological Agency, Moscow, Russian Federation

Department of Biology, Medical Genetics and Ecology

Department of Medical Biological Disciplines, Belgorod State University, Belgorod, Russian Federation

§Department of Physiology and Physiopathology and Medical Biology, SumyState University, Sumy, Ukraine; and

Department of Pediatrics, Kursk State Medical University, Kursk, Russian Federation.

Address correspondence and reprint requests to Alexey Polonikov, MD, PhD, Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, Karl Marx St 3, 305041 Kursk, Russian Federation; E-mail: polonikov@rambler.ru

Acknowledgment date: November 29, 2012. First revision date: February 14, 2013. Acceptance date: February 15, 2013.

The manuscript submitted does not contain information about medical device(s)/drug(s).

The study was supported in part by the Federal Targeted Program “Scientific and Scientific-Pedagogical Personnel of the Innovative Russia.”

No relevant financial activities outside the submitted work.

© 2013 Lippincott Williams & Wilkins, Inc.