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[颈椎后纵韧带骨化症与HLA单倍型的遗传学研究]

[Genetic study on OPLL in the cervical spine with HLA haplotype].

作者信息

Yamaguchi M

机构信息

Department of Orthopaedic Surgery, Faculty of Medicine, Kagoshima University, Japan.

出版信息

Nihon Seikeigeka Gakkai Zasshi. 1991 Aug;65(8):527-35.

PMID:1955798
Abstract

HLA typing was carried out in 27 families with cases of ossification of the posterior longitudinal ligament (OPLL) in the cervical spine, with haplotype analysis for genetic factors. The results showed a significantly higher incidence of rare haplotypes in probands than in the general Japanese population, suggesting that certain genes linked to HLA are responsible for OPLL. On examination of the distribution of HLA haplotypes in families with members suffering from cervical OPLL, no evidence of OPLL was found in members with only one haplotype in common with the proband. In 9 of 15 siblings with two haplotypes in common, however, OPLL was observed. Further analysis of HLA haplotyping may contribute to the elucidation of the genetic determinants of OPLL linked to two HLA haplotypes, probably based on multifactorial inheritance.

摘要

对27个患有颈椎后纵韧带骨化症(OPLL)的家庭进行了HLA分型,并对遗传因素进行了单倍型分析。结果显示,先证者中罕见单倍型的发生率显著高于一般日本人群,这表明与HLA相关的某些基因与OPLL有关。在对患有颈椎OPLL的家庭成员的HLA单倍型分布进行检查时,发现与先证者仅有一个共同单倍型的成员中没有OPLL的迹象。然而,在15个有两个共同单倍型的兄弟姐妹中,有9个观察到了OPLL。HLA单倍型的进一步分析可能有助于阐明与两个HLA单倍型相关的OPLL的遗传决定因素,这可能基于多因素遗传。

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引用本文的文献

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Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review.后纵韧带骨化症和弥漫性特发性骨肥厚中脊柱韧带骨化的遗传因素:一项叙述性综述
Front Genet. 2022 Oct 7;13:987867. doi: 10.3389/fgene.2022.987867. eCollection 2022.
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Increased Prevalence of Ossification of Posterior Longitudinal Ligament and Increased Bone Mineral Density in Patients with Ossification of Nuchal Ligament.项韧带骨化患者后纵韧带骨化患病率增加及骨密度升高
Korean J Spine. 2016 Sep;13(3):139-143. doi: 10.14245/kjs.2016.13.3.139. Epub 2016 Sep 30.
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The Clinical Significance of Ossification of Ligamentum Nuchae in Simple Lateral Radiograph : A Correlation with Cervical Ossification of Posterior Longitudinal Ligament.
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Hormones and growth factors in the pathogenesis of spinal ligament ossification.激素和生长因子在脊柱韧带骨化发病机制中的作用
Eur Spine J. 2007 Aug;16(8):1075-84. doi: 10.1007/s00586-007-0356-4. Epub 2007 Apr 11.