title: Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.
abstract: BACKGROUND
  Degenerative lumbar scoliosis (DLS) progresses with aging after 50-60 years, and the genetic association of DLS remains largely unclear. In this study, the genetic association between collagen type II alpha 1 (COL2A1) gene and DLS was investigated.
  
  
  METHODS
  COL2A1 gene polymorphism was investigated in DLS subjects compared to healthy controls to investigate the possibility of its association with COL2A1 gene. Based on a single nucleotide polymorphism (SNP) database, SNP (rs2276454) in COL2A1 were selected and genotyped using direct sequencing in 51 patients with DLS and 235 healthy controls. The SNP effects were analyzed using three models of codominant, dominant, and recessive. Logistic regression models were calculated for odds ratios (ORs) with 95% confidence intervals (CIs) and corresponding p-values, controlling age and gender as co-variables.
  
  
  RESULTS
  SNP (rs2276454) in COL2A1 was significantly associated with the degenerative lumbar scoliosis in the codominant (OR, 1.90; 95% CI, 1.17 to 3.10; p = 0.008) and dominant models (OR, 3.58; 95% CI, 1.59 to 9.29; p = 0.001).
  
  
  CONCLUSIONS
  The results suggest that COL2A1 is associated with the risk of DLS in Korean population.
authors.affiliation: Department of Orthopedic Surgery, Bando Hospital, Seoul, Korea.
authors.forename: Dae Woo
authors.initials: DW
authors.lastname: Hwang
authors.affiliation: Department of Orthopaedic Surgery, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
authors.forename: Ki Tack
authors.initials: KT
authors.lastname: Kim
authors.affiliation: Department of Orthopaedic Surgery, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
authors.forename: Sang Hoon
authors.initials: SH
authors.lastname: Lee
authors.affiliation: Department of Orthopaedic Surgery, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
authors.forename: Jung Youn
authors.initials: JY
authors.lastname: Kim
authors.affiliation: Department of Physical Medicine and Rehabilitation, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Kim
mesh_terms: D000368:Aged; D044466:Asian People; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D006801:Humans; D008159:Lumbar Vertebrae; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012600:Scoliosis / Q000208:ethnology / Q000235:genetics*
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II
keywords: COL2A1; Degenerative lumbar scoliosis; Korean; Single nucleotide polymorphism