COL2A1基因多态性与退行性腰椎侧凸的关联
Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.
作者信息
Hwang Dae Woo, Kim Ki Tack, Lee Sang Hoon, Kim Jung Youn, Kim Dong Hwan
机构信息
Department of Orthopedic Surgery, Bando Hospital, Seoul, Korea.
Department of Orthopaedic Surgery, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
出版信息
Clin Orthop Surg. 2014 Dec;6(4):379-84. doi: 10.4055/cios.2014.6.4.379. Epub 2014 Nov 10.
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.
背景
退行性腰椎侧弯（DLS）在50 - 60岁后随年龄增长而进展，其遗传关联在很大程度上仍不清楚。在本研究中，调查了Ⅱ型胶原α1（COL2A1）基因与DLS之间的遗传关联。
方法
与健康对照相比，在DLS受试者中研究COL2A1基因多态性，以探讨其与COL2A1基因关联的可能性。基于单核苷酸多态性（SNP）数据库，选择COL2A1中的SNP（rs2276454），并在51例DLS患者和235例健康对照中使用直接测序进行基因分型。使用共显性、显性和隐性三种模型分析SNP效应。计算逻辑回归模型的比值比（OR）及其95%置信区间（CI）和相应的p值，将年龄和性别作为协变量进行控制。
结果
COL2A1中的SNP（rs2276454）在共显性模型（OR，1.90；95% CI，1.17至3.10；p = 0.008）和显性模型（OR，3.58；95% CI，1.59至9.29；p = 0.001）中与退行性腰椎侧弯显著相关。
结论
结果表明，在韩国人群中，COL2A1与DLS的风险相关。
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