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A new haplotype in BMP4 implicated in ossification of the posterior longitudinal ligament (OPLL) in a Chinese population

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机构: [1]Capital Med Univ, Beijing Tiantan Hosp, Dept Orthopaed, Beijing 100050, Peoples R China; [2]Capital Med Univ, Beijing Tiantan Hosp, Dept Inst Neurosurg, Beijing 100050, Peoples R China; [3]Capital Med Univ, Beijing Tiantan Hosp, Dept Clin Lab, Beijing 100050, Peoples R China
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关键词: bone morphogenetic protein 4 haplotype ossification of the posterior longitudinal ligament single nucleotide polymorphisms severity

摘要:
Previous genome-wide microarray analysis of candidate genes involved in the ossification of the posterior longitudinal ligament (OPLL) of the spine resulted in the identification of a novel, clinically relevant gene encoding bone morphogenetic protein 4 (BMP4) but was defined only by its expression patterns. The complete genomic BMP4 coding DNA from 450 patients with OPLL and 550 matched controls were sequenced and compared. We identified 18 SNPs, among which the minor alleles of SNP8 (C>T; p<0.001; OR: 1.58), SNP13 (rs17563C>T; p<0.001; OR: 1.76), and SNP14 (rs76335800A>T; p<0.001; OR: 1.68) were associated with OPLL. Logistic regression analysis showed that the additive model of SNP8 (p<0.001; OR: 3.48), SNP13 (p<0.001; OR: 2.22), and SNP14 (p<0.001; OR: 1.99) retained statistical significance. Linkage disequilibrium (LD) analysis identified a 3-kbp block of intense LD in BMP4 and 1 specific haplotype, TGGGCTT (p<0.001, OR: 2.54), which was associated with OPLL-associated risk alleles and increased severity of OPLL, as shown by the distribution of ossified vertebrae in patients with OPLL (p=0.002). Novel mutations in the BMP4 gene and a specific haplotype TGGGCTT appear to contribute to the risk of developing OPLL. Also the severity of OPLL seems to be mediated predominantly by genetic variations in this specific BMP4 gene region, but might be associated with other certain clinical and demographic characteristics in the Chinese population studied. (C) 2011 Orthopaedic Research Society Published by Wiley Periodicals, Inc. J Orthop Res 30:748756, 2012

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出版当年[2011]版:
大类 | 3 区 医学
小类 | 2 区 骨科
最新[2023]版:
大类 | 3 区 医学
小类 | 3 区 骨科
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出版当年[2010]版:
Q1 ORTHOPEDICS
最新[2023]版:
Q2 ORTHOPEDICS

影响因子: 最新[2023版] 最新五年平均 出版当年[2010版] 出版当年五年平均 出版前一年[2009版] 出版后一年[2011版]

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第一作者机构: [1]Capital Med Univ, Beijing Tiantan Hosp, Dept Orthopaed, Beijing 100050, Peoples R China;
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通讯机构: [1]Capital Med Univ, Beijing Tiantan Hosp, Dept Orthopaed, Beijing 100050, Peoples R China;
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