The TGFB1 gene is associated with curve severity but not with the development of adolescent idiopathic scoliosis: a replication study in the Chinese population

BMC Musculoskeletal Disorders

Research Article

Xiaodong Qin¹  Zezhang Zhu¹  Yong Qiu¹  Leilei Xu¹  Weixiang Sun¹ 

[1] Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, 210008, Nanjing, China;

关键词: Adolescent idiopathic scoliosis;    TGFB1;    Polymorphism;    Replication;   

DOI  :  10.1186/s12891-016-0863-8

 received in 2015-06-10, accepted in 2016-01-05,  发布年份 2016

来源: Springer

【 摘 要 】

BackgroundThe transforming growth factor beta-1 (TGFB1) gene was recently reported to be a new susceptible gene of adolescent idiopathic scoliosis (AIS) in Russian population. This study aimed to replicate the relationship between the TGFB1 gene and the susceptibility of AIS in a Chinese population, and to further describe its association with the curve severity.MethodsA total of 1251 female AIS patients and 994 age-matched healthy controls were included in this study. The rs1800469 of TGFB1 gene was genotyped for all participants using the PCR-based Invader assay. The differences of genotype and allele distributions between AIS patients and healthy controls were assessed using the Chi-square test. One-way ANOVA test was used to compare the mean Cobb angles among patients with different genotypes.ResultsThere was no significant difference in terms of the genotype and the allele frequency between the patients and the controls. The mean Cobb angle was 34.7 ± 11.9° (range 25–61°). Case-only analysis showed that rs1800469 was significantly associated with the curve severity. Patients with genotype TT had remarkably higher curve magnitude (39.1 ± 12.8°) than those with genotype CT (34.8 ± 11.1°) or CC (32.1 ± 10.6°).ConclusionsThe TGFB1 gene may not be a predisposition gene of AIS in the Chinese population. However, it can play a role in the curve progression of AIS. Replication studies in other ethnic groups are warranted to understand the implication of TGFB1 gene in AIS.

【 授权许可】

CC BY   
© Xu et al. 2016