Association of COL2A1 Gene Polymorphism with Degenerative Lumbar Scoliosis.
10.4055/cios.2014.6.4.379
- Author:
Dae Woo HWANG
1
;
Ki Tack KIM
;
Sang Hoon LEE
;
Jung Youn KIM
;
Dong Hwan KIM
Author Information
1. Department of Orthopedic Surgery, Bando Hospital, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Degenerative lumbar scoliosis;
Single nucleotide polymorphism;
COL2A1;
Korean
- MeSH:
Aged;
Asian Continental Ancestry Group;
Collagen Type II/*genetics;
Female;
Humans;
*Lumbar Vertebrae;
Male;
Middle Aged;
Polymorphism, Single Nucleotide;
Scoliosis/ethnology/*genetics
- From:Clinics in Orthopedic Surgery
2014;6(4):379-384
- CountryRepublic of Korea
- Language:English
-
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.
