| Part 1:New evidence supporting the role of FBN1 in the development of adolescent idiopathic scoliosis[Objective]Data Previous studies have identified several rare variants in FBN1 and FBN2 that were associated with adolescent idiopathic scoliosis(AIS).However,there is a lack of knowledge concerning the association between common variants of FBN1 and FBN2 and AIS.To determine whether common variants of FBN1 and FBN2 are associated with AIS,and to further investigate to further investigate the functional role of FBN1 in the onset and progression of AIS.[Methods]This is a genetic association study.Common variants covering FBN1 and FBN2 were genotyped in 952 AIS patients and 1499 controls.Paraspinal muscles were collected from 66 AIS and 18 lumbar disc herniation(LDH)patients during surgical interventions.The differences of genotype and allele distributions between patients and controls were calculated using Chi-square test.The Student t test was used to compare the expression of FBN1 and FBN2 between AIS patients and LDH patients.One-way ANOVA test was used to compare the gene expression among different genotypes of the significantly associated variant.The Pearson correlation analysis was used to determine the relationship between FBN1 expression and the curve severity.[Results]The common variant rs1 2916536 of FBN1 was significantly associated with AIS.Patients were found to have significantly lower frequency of allele A than the controls(0.397 vs.0.450,p= 1.10 × 10-4)with an odds ratio of 0.81.Moreover,AIS patients were found to have significantly lower FBN1 expression than LDH patients(0.00033±0.00015 vs.0.00054±0.00031,p= 1.70 × 10-4).The expression level of FBN1 was remarkably correlated with the curve severity(r=-0.352,p=0.02).There was no significant difference of FBN1 expression among different genotypes of rs12916536.[Conclusions]Common variant of FBN1 is significantly associated with the susceptibility of AIS.Moreover,the decreased expression of FBN1 is significantly correlated with the curve severity of AIS.The functional role of FBN in AIS is worthy of further investigation.Part 2:Comparison of outcomes between vertebral coplanar alignment and traditional correction technique:a minimal 5-year follow-up research.[Objective]To retrospectively evaluate the long-term outcome of patients who underwent posterior vertebral coplanar alignment(VCA)surgery for the correction of idiopathic thoracic scoliosis.[Methods]94 idiopathic scoliosis(IS)patients undergoing posterior correction surgery by VCA or traditional technique between June 2008 and September 2012 were included in this study.In the VCA group,there were 42 females and 5 males with an average age of 17.9±6.5 years.The average preoperative Cobb angle was 72.8±14.8°.In the traditional technique group,there were 43 females and 4 male with an average age of 16.1±5.7 years.The average preoperative Cobb angle was 75.4±15.4°.The two groups were matched in terms of age,Cobb angle,Risser sign and time of follow-up.Cobb angle and TK of each period,operation time,blood loss,surgery-related complications were recorded to be analyzed.[Results]For the VCA group,the mean postoperative Cobb angle was 20.7±8.9° with a correction rate of 71.6%.The rate of correction loss was 6.6%at the final follow-up.For the traditional technique group,the mean postoperative Cobb angle was 22.3±7.8°with a correction rate of 70.4%.The rate of correction loss was 6.6%at the final follow-up.There was no difference between two groups(p>0.05)regarding the correction rate and correction loss.For the VCA group the TK was restored from 15.8±12.40 to 25.8±12.5°at the final follow-up.For the traditional group the TK was restored from 17.8±13.4°to 19.3±12.1° at the final follow-up.There was significant difference in TK between and the two groups at the final follow-up(p<0.05).Besides,there was no difference in terms of operation time,blood loss,and post-operative complications between the two groups.[Conclusion]The VCA technique can serve as a reliable option for the correction of thoracic scoliosis.Patients can have a favorable long-term outcome in terms of curve correction and restoration of sagittal profile. |
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