Evidence of an inherited predisposition for cervical spondylotic myelopathy.
Evidence of an inherited predisposition for cervical spondylotic myelopathy.
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脊髓型颈椎病遗传倾向的证据。
DOI：
10.1097/brs.0b013e3182102ede
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发表时间：
2012
期刊：
影响因子：
3
通讯作者：
Cannon-Albright,LisaA
中科院分区：
文献类型：
--
作者：
Patel,AlpeshA;Spiker,WilliamRyan;Daubs,Michael;Brodke,DarrelS;Cannon-Albright,LisaA
研究设计。一项以人群为基础的回顾性研究，交叉参考了200多万犹他州居民的家谱数据库和一家大型三级医院10年的临床诊断数据。目的：本研究的目的是确定脊髓型颈椎病（CSM）发展的遗传易感是否存在。背景资料摘要。遗传易感性的颈椎病的发展已经讨论了文献与低质量的证据。在同卵双胞胎中，有高发病率或早发性疾病的家庭都有报道。然而，这些关于疾病遗传倾向的建议从未被严格研究过。本研究的目的是确定诊断为csm的患者的遗传易感性。方法：犹他州人口数据库结合了超过200万犹他州居民的健康和家谱数据。使用国际疾病分类第九版（ICD-9）代码在数据库中确定诊断为CSM的486例患者（ICD-9代码721.1）。使用家谱亲缘指数（Genealogical Index of Familiality， GIF）对过度家族聚类的假设进行了检验，并通过比较每个病例中亲属的发病率与5个匹配对照的亲属的发病率来估计亲属的相对风险（relative risk, rr）。该方法已被报道并验证用于其他疾病，但未用于脊髓型颈椎病。结果：脊髓型颈椎病患者的GIF分析显示与疾病有显著的过度相关性（P< 0.001）。第一亲属（RR= 5.21， CI= 2.1 ~ 13.2， P< 0.001）和三度亲属（RR= 1.95， CI= 1.04 ~ 3.7， P< 0.05）的RRs均显著升高。病例与近亲和远亲的过度相关性和显著升高的rr支持CSM的遗传易感性。
Study Design.A retrospective, population-based study cross-referencing a genealogic database of over 2 million Utah residents with 10 years of clinical diagnosis data from a large tertiary hospital.Objective.The objective of this study is to determine the presence or absence of an inherited predisposition to the development of cervical spondylotic myelopathy (CSM).Summary of Background Data.A genetic predisposition for the development of cervical spondylosis has been discussed in the literature with low-quality evidence. Families with a high incidence of disease or early-onset disease in monozygotic twins have both been reported. However, these suggestions of an inherited predisposition for disease have never been rigorously studied. The purpose of this study is to determine a genetic predisposition among patients diagnosed with CSM.Methods.The Utah Population Database combines health and genealogic data on over 2 million Utah residents. International Classification of Diseases, Ninth Revision (ICD-9) codes were used to identify 486 patients in the database with a diagnosis of CSM (ICD-9 code 721.1). The hypothesis of excessive familial clustering was tested using the Genealogical Index of Familiality (GIF), and relative risks (RRs) in relatives were estimated by comparing rates of disease in relatives with rates estimated in the relatives of five matched controls for each case. This methodology has been previously reported and validated for other disease conditions but not for CSM.Results.The GIF analysis for patients with CSM showed significant excess relatedness for disease (P< 0.001). RRs were significantly elevated in both first-(RR= 5.21, CI= 2.1–13.2, P< 0.001) and third-degree relatives (RR= 1.95, CI= 1.04–3.7, P< 0.05).Conclusion.Excess relatedness of cases and significantly elevated RRs to both close and distant relatives supports an inherited predisposition to CSM.