Introduction: Scoliosis was found to develop in mice with neurotrophin 3 (NTF3) deficiency. Increased expression of NTF3 mRNA was detected in the paravertebral muscle in adolescent idiopathic scoliosis (AIS). Moreover, linkage study has defined a novel AIS locus on chromosome 12p and NTF3 gene located in this interval.
Objectives: To investigate whether the NTF3 gene polymorphisms was associated with the susceptibility or curve progression of AIS.
Materials and Methods: 362 AIS patients including 29 males (mean age 15.30 years) and 377 age-matched healthy controls including 37 males (mean age 15.86 years) were recruited. Cobb angle, risser sign some other clinical indexes were recorded. Two SNPs were selected through the HapMap database and genotyped by PCR-RFLP. Case control association study and case only association study were performed.
Results: The genotype and allele frequency distribution were similar between AIS and normal control. The AIS patients with AA genotype of promoter polymorphism of NTF-3 gene (rs11063714) showed significantly lower maximum Cobb angle than the patients with AG or GG genotypes.
Conclusion: The NTF3 gene polymorphism is not associated with the occurrence of AIS, but the promoter polymorphism (rs11063714) was found to be associated with the curve severity. These findings indicated that NTF3 gene might be a disease-modifying gene of AIS.
Significance: Our study first reported the association between NTF3 gene polymorphism and the curve severity of AIS. Further study is required to elucidate the role of NTF3 gene in the abnormal NTF3 expression in the paravertebral muscle from AIS.