Genetics of the Degenerated Intervertebral Disc
Genetics of the Degenerated Intervertebral Disc
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DOI：
10.1016/j.wneu.2011.07.014
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发表时间：
2012-03-01
影响因子：
2
通讯作者：
Theodore, Nicholas
中科院分区：
文献类型：
--
作者：
Kalb, Samuel;Martirosyan, Nikolay L.;Theodore, Nicholas
背景：鉴于过去十年遗传和蛋白质组学的进展，人们对几种复杂疾病的分子发病机制的了解正在不断增加。椎间盘疾病（IVDD）与其他复杂疾病没有什么不同，环境和遗传因素都被认为是病因。这一概念挑战了传统观点，即年龄、职业、吸烟、肥胖和主要磨损是椎间盘退变的唯一来源。方法：我们对与人类 IVDD 发展相关的基因参与的最新文章进行了系统的 Medline 综述。结果：涉及椎间盘功能成分（包括胶原蛋白 I、胶原蛋白）的候选基因连锁和关联研究 IX、胶原蛋白 XI、聚集蛋白聚糖、细胞外基质降解酶、炎症细胞因子（IL-1、IL-6 和 TNF α）、Fas/FasL 和维生素 D 受体已取得了有希望的结果。结论：本综述强调了与特定退变椎间盘表型、单核苷酸多态性、 疾病遗传以及与 IVDD 相关的基因-环境相互作用，以帮助改进与 IVDD 遗传机制相关的未来研究。
BACKGROUND: Given the genetic and proteomic advances of the past decade, understanding of the molecular etiopathogenesis of several complex diseases is increasing. Intervertebral disc disease (IVDD) is no different from other complex diseases where both environmental and genetic constituents are considered causes. This concept has challenged the traditional view that age, occupation, smoking, obesity, and primarily wear and tear are the only sources of disc degeneration.METHODS: We conducted a systematic Medline review of the most current articles related to gene involvement in the development of IVDD in humans.RESULTS: Candidate gene linkage and association studies involving the functional components of the intervertebral disc, including collagen I, collagen IX, collagen XI, aggrecan, extracellular matrix-degrading enzymes, inflammatory cytokines (IL-1, IL-6, and TNF alpha), Fas/FasL and vitamin D receptors, have had promising results.CONCLUSIONS: This review emphasizes the latest advances in gene association with specific degenerated disc phenotypes, single nucleotide polymorphisms, disease heredity, and gene-environmental interactions in relation to IVDD to help improve future studies related to the genetic mechanisms underlying IVDD.