Genetic Variant of SOCS3 Gene is Functionally Associated With Lumbar Adolescent Idiopathic Scoliosis

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Abstract

Study Design:

This is a genetic association study.

Objective:

To investigate association between suppressor of cytokine signaling-3 (SOCS3) gene polymorphisms and the onset and progression of lumbar adolescent idiopathic scoliosis (AIS) and to further clarify its role in the regulation of SOCS3 expression in AIS patients.

Summary of Background Data:

Some studies showed that muscle development imbalance may be responsible for onset and progression of lumbar AIS. SOCS3 is one of the significant regulators of skeletal muscle development, and in vitro study showed that SOCS3 influences myoblast differentiation.

Materials and Methods:

Rs4969198 was genotyped in 476 lumbar AIS patients and 672 controls. The differences of genotype and allele distributions between patients and controls were calculated using the χ2 test. Paravertebral muscles were collected from 53 AIS, 23 congenital scoliosis, and 18 lumbar disk herniation patients. AIS patients were classified into 3 groups according to the genotypes of each single nucleotide polymorphisms, and 1-way analysis of variance test was used to compare SOCS3 expression among different groups and genotypes.

Results:

Patients were found to have a significantly higher frequency of GG than the controls (40.8% vs. 29.9%, odds ratio=1.36; P=0.000), and the frequency of allele G was found to be remarkably higher in the patients than the controls (65.3% vs. 56.7%, odds ratio=1.15; P=0.000). AIS patients had significantly less muscle expression of the SOCS3 than the congenital scoliosis patients (2.73±2.17 vs. 4.62±2.41; P=0.006) and the lumbar disk herniation patients (2.73±2.17 vs. 4.12±2.93; P=0.009). The SOCS3 expression was significantly correlated with the curve severity (r=0.472; P=0.014).

Conclusions:

The SOCS3 gene is significantly associated with the development of lumbar AIS in Chinese population. Decreased expression of SOCS3 is associated with larger severity of lumbar AIS.

Level of Evidence:

Level III.

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