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

نویسندگان

  • Leilei Xu
  • Weixiang Sun
  • Xiaodong Qin
  • Yong Qiu
  • Zezhang Zhu
چکیده

BACKGROUND The 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. METHODS A 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. RESULTS There 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°). CONCLUSIONS The 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.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

مقایسه میزان تراکم استخوان دختران مبتلا به اسکولیوز ایدیوپاتیک با افراد بدون اسکولیوز

Background: Several studies have suggested higher incidence of osteoporosis in patients with idiopathic scoliosis in comparison with the normal population. The aim of this study was to assess the prevalence of low bone mass among adolescent girls with idiopathic scoliosis.Methods: In this cross-sectional study performed in shafa Hospital in Tehran, Iran during 2011-2012, we recruited fifty-seve...

متن کامل

Replication study of estrogen receptor 1 XbaI polymorphism in adolescent idiopathic scoliosis (AIS) Caucasian population

Background It has been suggested that XbaI single nucleotide polymorphism (SNP) (A/G rs934099) in estrogen receptor 1 (ESR1) may be associated with curve severity in Japanese AIS patients [1] and with both curve severity and predisposition for AIS in Chinese patients [2]. However, replication studies have not confirmed these findings [3]. The role of the XbaI ESR1 polymorphism rs9340799 in AIS ...

متن کامل

Single nucleotide polymorphism rs708567 in IL-17RC gene is associated with a susceptibility to and curve severity of adolescent idiopathic scoliosis in a Chinese Han population: a case-control study

Background. Although the pathogenesis of adolescent idiopathic scoliosis (AIS) remains controversial, genetic factors are thought to play a key role in the development of AIS. In a recent genome wide association study, a polymorphism in the interleukin-17 receptor C (IL-17RC) gene was reported to be associated with susceptibility to AIS, implicating IL-17RC as a novel predisposition gene for AI...

متن کامل

Comparison of Respiratory Muscle Electromyography between Adolescent Idiopathic Scoliosis and Healthy Subjects

Purpose: Scoliosis is one of the most common spinal deformities that affect chest wall mechanics. Scoliosis results in ventilator disorders and respiratory muscle weakness. However, the mechanism of these disorders is still unknown. The main objective of this study was to identify the intensity of respiratory muscles activity in patients with idiopathic scoliosis compare with healthy indi...

متن کامل

Association between Common Variants near LBX1 and Adolescent Idiopathic Scoliosis Replicated in the Chinese Han Population

BACKGROUND Adolescent idiopathic scoliosis (AIS) is one of the most common spinal deformities found in adolescent populations. Recently, a genome-wide association study (GWAS) in a Japanese population indicated that three single nucleotide polymorphisms (SNPs), rs11190870, rs625039 and rs11598564, all located near the LBX1 gene, may be associated with AIS susceptibility [1]. This study suggests...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 17  شماره 

صفحات  -

تاریخ انتشار 2016