Clin Orthop Surg.  2014 Dec;6(4):379-384. 10.4055/cios.2014.6.4.379.

Association of COL2A1 Gene Polymorphism with Degenerative Lumbar Scoliosis

• Hwang DW
• Kim KT
• Lee SH
• Kim JY
• Kim DH

• KMID: 1794724
• DOI: http://doi.org/10.4055/cios.2014.6.4.379

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.

Keyword

Degenerative lumbar scoliosis; Single nucleotide polymorphism; COL2A1; Korean

MeSH Terms

Aged
Asian Continental Ancestry Group
Collagen Type II/*genetics
Female
Humans
*Lumbar Vertebrae
Male
Middle Aged
Polymorphism, Single Nucleotide
Scoliosis/ethnology/*genetics
Collagen Type II

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