title: 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.
authors.affiliation: Department of Orthopedic Surgery, Spine Center, Kyung Hee University East-West Neo Medical Center, Kangdong-gu, Seoul 134-090, Republic of Korea.
authors.forename: Ki-Tack
authors.initials: KT
authors.lastname: Kim
authors.affiliation: Departments of Emergency Medicine, Kyung Hee University, Dongdaemun-gu, Seoul 130-701, Republic of Korea.
authors.forename: Jong Seok
authors.initials: JS
authors.lastname: Lee
authors.affiliation: Biochemistry and Molecular Biology, Kyung Hee University, Dongdaemun-gu, Seoul 130-701, Republic of Korea.
authors.forename: Byoung Wook
authors.initials: BW
authors.lastname: Lee
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Dongdaemun-gu, Seoul 130-701, Republic of Korea.
authors.forename: Hosik
authors.initials: H
authors.lastname: Seok
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Dongdaemun-gu, Seoul 130-701, Republic of Korea.
authors.forename: Hye Sook
authors.initials: HS
authors.lastname: Jeon
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Dongdaemun-gu, Seoul 130-701, Republic of Korea.
authors.forename: Jun Ho
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Dongdaemun-gu, Seoul 130-701, Republic of Korea.
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
keywords: degenerative lumbar scoliosis; polymorphism; regulating synaptic membrane exocytosis 2