TY - JOUR AB - 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. AD - Department of Orthopedic Surgery, Spine Center, Kyung Hee University East‑West Neo Medical Center, Kangdong‑gu, Seoul 134‑090, Republic of Korea Department of Emergency Medicine, Kyung Hee University, Dongdaemun‑gu, Seoul 130‑701, Republic of Korea Department of Biochemistry and Molecular Biology, Kyung Hee University, Dongdaemun‑gu, Seoul 130‑701, Republic of Korea Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Dongdaemun‑gu, Seoul 130‑701, Republic of Korea AU - Kim,Ki‑Tack AU - Lee,Jong Seok AU - Lee,Byoung Wook AU - Seok,Hosik AU - Jeon,Hye Sook AU - Kim,Jun Ho AU - Chung,Joo‑Ho DA - 2013/07/01 DO - 10.3892/br.2013.101 EP - 623 IS - 4 JO - Biomed Rep KW - degenerative lumbar scoliosis regulating synaptic membrane exocytosis 2 polymorphism PY - 2013 SN - 2049-9434 2049-9442 SP - 619 ST - Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis T2 - Biomedical Reports TI - Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis UR - https://doi.org/10.3892/br.2013.101 VL - 1 ER -