Genetic Analysis of Ossification of the Posterior Longitudinal Ligament

Matsunaga, Shunji; Yoshizumi, Masao; Hayashi, Kyoji; Sakou, Takashi

doi:10.1097/00007632-199905150-00002

Cited by 83 publications

(41 citation statements)

References 7 publications

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“…A link between HLA and OPLL 20,28 appears to be present, but an association of HLA with OPLL does not implicate causation. Many pathological disease processes are noted to be more frequent with a certain HLA type (diabetes, ankylosing spondylitis, and others).…”

Section: Discussionmentioning

confidence: 81%

“…These results were later confirmed in a study of 24 patients and 61 sib-pairings, in which relatives with 2 HLA haplotypes had greater than a 50% chance of having OPLL, and those with only 1 identical strand were shown to have less than a 25% chance. 20 Following these findings, a search for the gene responsible for OPLL on chromosome 6 was undertaken. Koga et al…”

Section: Association Of Opll To Hla Haplotypes and Examination Of Chrmentioning

confidence: 99%

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The genetics of ossification of the posterior longitudinal ligament

Stetler¹,

Marca²,

Park³

2011

FOC

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Object Ossification of the posterior longitudinal ligament (OPLL) is a pathological process of ectopic calcification with a preponderance for the cervical spine. Epidemiological and familial studies have both indicated predisposition; however, the genetic inheritance pattern and responsible genes for OPLL are still uncertain. The aim of this study was to evaluate and summarize the current understanding of the genetics underlying OPLL. Methods The authors reviewed epidemiological and genetic studies surrounding OPLL, with a particular focus on inheritance patterns and potential genes responsible for OPLL, using a PubMed database literature search. Results Despite an unclear inheritance pattern, there appears to be a strong familial link in patients with OPLL. Examination of these patterns using linkage analysis has shown multiple candidate genes that could be responsible for the inheritance of OPLL. Genes for collagen, nucleotide pyrophosphatase, transforming growth factors, and the vitamin D receptor have all been implicated. Additionally, multiple cytokines and growth factors, including bone morphogenetic proteins as well as other proteins and interleukins involved in bone development, have been shown to be abnormally expressed in patients with OPLL. In addition, multiple mechanical and metabolic factors such as hyperinsulinemia and obesity have been shown to be linked to OPLL. Conclusions Ossification of the posterior longitudinal ligament has a complex inheritance pattern. It does not appear that OPLL follows a simple, single-gene Mendelian inheritance pattern. Development of OPLL is more likely multifactorial in nature and develops in patients with a genetic predisposition from a variety of different mutations in various genes on various chromosomes. Additionally, environmental factors and interaction by other pathological disease processes, such as obesity and diabetes mellitus, may play a role in the development of OPLL in susceptible individuals.

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Section: Discussionmentioning

confidence: 81%

Section: Association Of Opll To Hla Haplotypes and Examination Of Chrmentioning

confidence: 99%

The genetics of ossification of the posterior longitudinal ligament

Stetler¹,

Marca²,

Park³

2011

FOC

View full text Add to dashboard Cite

show abstract

“…In addition, OPLL displays a strong genetic background, although the mean age of onset is about 50 years. Several OPLL genetic backgrounds have been analyzed in case-control association studies, and the contribution of genetic factors is likely to differ with sex, age, and severity of ossification (9,15,18,25,35,40). Further study of the potential relationships between OPLL and genetic polymorphisms of Msx2 and related genes is thus warranted.…”

Section: Discussionmentioning

confidence: 99%

Homeobox Protein Msx2 Acts as a Molecular Defense Mechanism for Preventing Ossification in Ligament Fibroblasts

Yoshizawa

Takizawa²,

Iizawa³

et al. 2004

Molecular and Cellular Biology

105

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“…2,5-7,9-11, 13,15,17,22,23 Although a host of gene products has been implicated as the root cause, several genes and proteins have emerged over the years as promising targets for future investigation and intervention: NPPS, COL11A2 and COL6A1, and BMP-2 and TGFβ ( Ossification of the posterior longitudinal ligament (OPLL) is a disease of progressive ectopic calcification of the PLL of the spine. It occurs most frequently in the cervical spine, followed by the thoracic spine.…”

mentioning

confidence: 99%

Ossification of the posterior longitudinal ligament: genetics and pathophysiology

Stapleton

Pham

Attenello

et al. 2011

FOC

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Ossification of the posterior longitudinal ligament (OPLL) is a disease of progressive ectopic calcification of the PLL of the spine. It occurs most frequently in the cervical spine, followed by the thoracic spine. The disease was first described in the Japanese population, and the prevalence of OPLL is highest in Japan at a rate of 1.9%–4.3%. Note, however, that OPLL is also seen and is a known cause of cervical myelopathy in other Asian countries and in the white population. Research into the underlying cause of OPLL over the past few decades has shown that it is a multifactorial disease with significant genetic involvement. Genetic studies of OPLL have revealed several gene loci that may be involved in the pathogenesis of this disease. Genes encoding for proteins that process extracellular inorganic phosphate, collagen fibrils, and transcription factors involved in osteoblast and chondrocyte development and differentiation have all been implicated in the pathophysiology of OPLL. In this paper, the authors review current understanding of the genetics and pathophysiology of OPLL.

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Genetic Analysis of Ossification of the Posterior Longitudinal Ligament

Abstract: Genetic factors predispose toward the development of OPLL.

Cited by 83 publications

References 7 publications

The genetics of ossification of the posterior longitudinal ligament

The genetics of ossification of the posterior longitudinal ligament

Homeobox Protein Msx2 Acts as a Molecular Defense Mechanism for Preventing Ossification in Ligament Fibroblasts

Ossification of the posterior longitudinal ligament: genetics and pathophysiology

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