Polymorphism of rs2767485 in Leptin Receptor Gene is Associated With the Occurrence of Adolescent Idiopathic Scoliosis.

STUDY DESIGN: A genetic association study of leptin receptor (LEPR) gene with adolescent idiopathic scoliosis (AIS) in the Chinese Han population. OBJECTIVE: To determine whether LEPR gene polymorphisms are associated with the predisposition and/or disease severity of AIS. SUMMARY OF BACKGROUND DATA: Patients with AIS were reported to have lower body mass index (BMI), abnormal leptin bioavailability, and systemic lower bone mass, which implied that leptin/LEPR signaling pathway may be implicated in the etiology of AIS. Previous association study of the polymorphisms in leptin gene did not show significant differences between AIS cases and controls. However, no study has been done to investigate the relationship between genetic polymorphisms of the LEPR gene and susceptibility to AIS. METHODS: 570 patients with AIS aged 10 to 18 years were enrolled, and 570 age-matched healthy subjects were recruited as controls. 6 single nucleotide polymorphisms (SNPs) (rs1137101, rs1137100, rs4655555, rs2767485, rs1751492, and rs8179183) of LEPR gene were selected. The polymorphisms were genotyped using the polymerase chain reaction (PCR)-based Invader assay. Case-control study was performed to define the contribution of the 6 SNPs to predisposition of AIS. 1-way analysis of variance (ANOVA) test was used to compare the mean Cobb angles and BMI among patients with different genotypes in case-only analyses. Statistical significance was set at P < 0.05. RESULTS: Both the genotype and allele frequencies of SNP rs2767485 were significantly different between the patient with AIS and the control groups. No significant difference of allele frequency was noted in other 5 SNPs between the patients with AIS and the normal controls. Both the mean maximum Cobb angles and BMI of different genotype AIS groups were similar to each other for all the 6 SNPs (P > 0.05). CONCLUSION: Polymorphism of rs2767485 in LEPR gene is associated with the occurrence of AIS, suggesting LEPR is a predisposition gene.

[Correlation between the shifting of medulla oblongata and cerebellum and syrinx resolution after posterior fossa decompression in Chiari malformation].

OBJECTIVES: To evaluate the changes of the position of medulla oblongata and cerebellum following posterior fossa decompression (PFD), and to investigate their influences on the prognosis of the syringomyelia in adolescents with Chiari malformation (CM). METHODS: A retrospective review was performed on all CM patients between September 2006 and September 2011. A subset of 46 patients, including 25 male and 21 female patients, was finally enrolled according to the inclusion criteria. The initial age and duration of follow-up averaged 13.9 years (range, 10-17 years) and 13 months (range, 6-52 months), respectively. On mid-sagittal MRI, the following parameters were evaluated pre- and postoperatively (follow-up ≥ 6 months): the longitudinal and transverse position of bulbopontine sulcus, the fourth ventricle vertex, the lower extreme of cerebella tonsil, the cervico-medullary angle, the maximal syrinx/cord(S/C) ratio and the syrinx length. Changes in these parameters were analysed using the paired samples t test, and for these reaching statistical significances, an additional bivariate correlation analysis was performed to investigate their relation with syrinx resolution. RESULTS: At the latest follow-up, upward shifting of the bulbopontine sulcus was observed in 31 patients(67.4%), with upward shifting of the lower extreme of cerebella tonsil presenting in 35 patients(76.0%). The maximal S/C ratio and the syrinx length were significantly improved postoperatively (t = 7.114 and 7.816, P = 0.000).Significant resolution of the syrinx was demonstrated in 40 patients(86.9%), and more specifically, the average improvement rates of the maximal S/C ratio and the syrinx length were 32% ± 30%and 43% ± 33%, respectively. In addition, the bivariate correlation analysis revealed that syrinx resolution was significantly correlated with the upward shifting of the bulbopontine sulcus (r = 0.332, P = 0.027) and lower extreme of cerebella (r = 0.298, P = 0.044) . CONCLUSION: The upward shifting of the bulbopontine sulcus and the lower extreme of cerebella tonsil might be implicated in the mechanisms of postoperative syrinx resolution.