Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
S MaedaI Inoue

Abstract

Ossification of the posterior longitudinal ligament (OPLL) of the spine is the leading cause of myelopathy in Japan. In earlier studies, we provided genetic linkage and allelic association evidence of distinct differences in the human collagen alpha2(XI) gene (COL11A2) that might constitute inherited predisposition to OPLL. In the present study, a strong allelic association with non-OPLL (p = 0.0003) was observed with an intron 6 polymorphism [intron 6 (-4A)], in which the intron 6 (-4A) allele is more frequently observed in non-OPLL subjects than in OPLL patients. In addition, a newly identified polymorphism in exon 6 [exon 6 (+28A)] was in linkage disequilibrium with the intron 6 (-4A). The functional impact of the polymorphisms was analyzed by comparing the differences in messenger RNA (mRNA) splicing by reverse-transcription polymerase chain reaction (RT-PCR) analysis in cultured cells from the interspinous ligament and an in vitro exon trapping study. The intron 6 (-4A) allele resulted in skipping exon 6 and retaining exon 7, while the exon 6 (+28A) allele was not associated with alteration in mRNA splicing. Similar mRNA species were observed in undifferentiated osteoblast (Ob) cells and in cells from posterior longitudina...Continue Reading

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Citations

Jun 29, 2013·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Seung-Jae HyunSung-Woo Roh
Dec 3, 2003·Annals of the Rheumatic Diseases·N Noponen-HietalaL Ala-Kokko
Apr 5, 2008·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Hai LiLi-Yang Dai
Apr 5, 2008·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Hao WangXin Lin
Aug 19, 2011·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Kenzo UchidaHisatoshi Baba
Mar 26, 2011·Neurosurgical Focus·William R StetlerPaul Park
Mar 26, 2011·Neurosurgical Focus·Christopher J StapletonPatrick C Hsieh
Mar 26, 2011·Neurosurgical Focus·Kriangsak SaetiaSang Don Kim
Mar 6, 2008·Journal of Pharmacological Sciences·Masaki KishiyaKen-Ichi Furukawa
Oct 3, 2017·Aging and Disease·Liang YanDingjun Hao
Apr 24, 2004·Spine·Gen KobashiUNKNOWN Japan Collaborative Epidemiological Study Group for Evaluation of Ossification of the Posterior Longitudinal Ligament of the
Jan 5, 2002·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Kozo FurushimaIturo Inoue
Jun 1, 2006·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Tomohiro GotoNatsuo Yasui
Feb 3, 2007·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Iita M VirtanenMinna Männikkö
Feb 7, 2007·Current Opinion in Rheumatology·Anthony M Reginato, Bjorn R Olsen
Mar 13, 2010·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·Sílvia Regina Caminada ToledoAntonio Sergio Petrilli
Dec 7, 2016·Frontiers in Surgery·Corey T WalkerNicholas Theodore
Jan 25, 2020·Nature Reviews. Neurology·Jetan H BadhiwalaMichael G Fehlings
Jun 18, 2018·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Shuai ChenJian Chen
May 3, 2019·Biomolecules & Therapeutics·Dae Cheol NamSun-Chul Hwang
Apr 4, 2021·Journal of Clinical Medicine·Ji TuAshish D Diwan

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