Dataset Information

Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis.

ABSTRACT: Degenerative lumbar scoliosis (DLS) is a spinal deformity that develops after skeletal maturity and progresses with age. In contrast to adolescent idiopathic scoliosis, the genetic association of DLS has not yet been elucidated. The purpose of this study was to investigate the association between regulating synaptic membrane exocytosis 2 (RIMS2, OBOE) gene polymorphisms and DLS. Two coding single-nucleotide polymorphisms [rs2028945 (Gln1200Gln) and rs10461 (Ala1327Ala)] of RIMS2 were selected and genotyped by direct sequencing. As a result, the rs10461 was associated with DLS in allele frequencies (P=0.008) and genotype distributions (P=0.006 in the codominant model, 0.018 in the dominant model and 0.029 in the recessive model). In the analysis of haplotypes, two haplotypes exhibited significant differences between the control and DLS groups (CC haplotype, P=0.009 in the codominant model, 0.038 in the dominant model and 0.030 in the recessive model; CT haplotype, P=0.041 in the codominant model and 0.021 in the dominant model). These findings suggest that RIMS2 may be associated with the development of DLS.

SUBMITTER: Kim KT

PROVIDER: S-EPMC3917086 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis.

Kim Ki-Tack KT Lee Jong Seok JS Lee Byoung Wook BW Seok Hosik H Jeon Hye Sook HS Kim Jun Ho JH Chung Joo-Ho JH

Biomedical reports 20130509 4

Degenerative lumbar scoliosis (DLS) is a spinal deformity that develops after skeletal maturity and progresses with age. In contrast to adolescent idiopathic scoliosis, the genetic association of DLS has not yet been elucidated. The purpose of this study was to investigate the association between regulating synaptic membrane exocytosis 2 (RIMS2, OBOE) gene polymorphisms and DLS. Two coding single-nucleotide polymorphisms [rs2028945 (Gln1200Gln) and rs10461 (Ala1327Ala)] of RIMS2 were selected an ...[more]

PMID: 24648997

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Project description:BACKGROUND:The windswept lower limb deformity describes valgus deformity in one leg with varus deformity in the other. It is mostly seen in young children with metabolic bone diseases (such as rickets) and may lead to leg length discrepancy (LLD) and Degenerative scoliosis (DS) in older age. To the best of our knowledge, there was no report of the spinal surgery in patient with severe DS associated with windswept deformity. The objective of this study is to report the unique case of a 60-year-old woman with severe degenerative scoliosis (DS) associated with windswept deformity caused by rickets who underwent a posterior correction and fusion surgery in spine. CASE PRESENTATION:The patient was diagnosed as rickets windswept lower limb deformity for 50?years but never went through routine treatment. Then, she performed lumbar scoliosis for more than 20?years and suffered from severe back pain for 4?years. After overall clinical evaluation and radiographic measures, we performed a posterior surgical correction and fusion from T9-L5. With this surgery, the main thoracolumbar curve Cobb angle corrected from 72.5° to 21.0°, the coronal balance from 0?cm to 2.0?cm while the sagittal vertical axis (SVA) from 1.5?cm to -?1.0?cm. At 2?years postoperative follow-up, her back pain has almost completely relieved with a satisfied fixation and bone fusion showed on CT scans. However, a coronal imbalance was found with C7-CSVLdistance equal to 4.0?cm. This coronal imbalance was highly correlated to the untreated LLD and pelvic obliquity, and should be improved by standing posture or shoe lifts. CONCLUSIONS:For such patient, the pure spinal correction and fusion surgery, in spite of lower limbs deformity, can achieve good relieve of back pain symptom, however may accompany by the complication of coronal imbalance due to the unimproved pelvic obliquity and LLD. However, longer follow-up is necessary to observe the long-term outcome of this patient's postoperative coronal imbalance.

Dataset Information

Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis.

Publications

Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis.

Similar Datasets

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