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维生素D受体和聚集蛋白聚糖基因多态性与椎间盘退变疾病的关联

Association of the polymorphisms of vitamin D receptor and aggrecan genes with degenerative disc disease.

作者信息

Eser Betul, Cora Tulin, Eser Olcay, Kalkan Erdal, Haktanir Alpay, Erdogan Mujgan O, Solak Mustafa

机构信息

Department of Medical Genetic, Faculty of Meram Medicine, Selcuk University, Konya, Turkey.

出版信息

Genet Test Mol Biomarkers. 2010 Jun;14(3):313-7. doi: 10.1089/gtmb.2009.0202.

Abstract

The aim of this study was to investigate the association between the polymorphisms of the vitamin D receptor (VDR) and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan and VDR proteins are the main components of bone and cartilage. In our study, the polymorphisms of the VDR and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation. An association was found in the patients having VDR gene TT, Tt, FF, and Ff genotypes with the protrusion type of disc herniation, whereas the patients having tt and ff genotypes were associated with extrusion/sequestration types of the disease. Also, an association was observed between TT and FF genotypes of the VDR gene and mild forms of disc degeneration; and tt, ff, and Ff genotypes and severe forms of the disease. There was also an association between shorter, normal, and longer alleles of the aggrecan gene and a protrusion type of disc herniation. An association was found between short alleles and multilevel and severe disc degeneration, as well as normal and long alleles and mild disc degeneration. This study revealed that the polymorphisms of the VDR and aggrecan genes are associated with disc degeneration and herniation.

摘要

本研究旨在调查年轻土耳其患者中维生素D受体(VDR)基因和聚集蛋白聚糖基因多态性与椎间盘退变疾病之间的关联。聚集蛋白聚糖和VDR蛋白是骨骼和软骨的主要成分。在我们的研究中,共对300名个体的VDR基因和聚集蛋白聚糖基因多态性进行了椎间盘退变和突出方面的调查。发现VDR基因TT、Tt、FF和Ff基因型的患者与椎间盘突出型突出相关,而tt和ff基因型的患者与疾病的挤出/游离型相关。此外,观察到VDR基因的TT和FF基因型与轻度椎间盘退变之间存在关联;tt、ff和Ff基因型与疾病的重度形式之间存在关联。聚集蛋白聚糖基因的短、正常和长等位基因与椎间盘突出型突出之间也存在关联。发现短等位基因与多节段和重度椎间盘退变相关,正常和长等位基因与轻度椎间盘退变相关。本研究表明,VDR基因和聚集蛋白聚糖基因多态性与椎间盘退变和突出相关。

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