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T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population

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收录情况: ◇ SCIE ◇ 统计源期刊 ◇ 中华系列

机构: [1]Capital Med Univ, Chaoyang Hosp, Dept Orthopaed, Beijing 100020, Peoples R China; [2]Capital Med Univ, Beijing Tiantan Hosp, Dept Orthopaed, Beijing 100050, Peoples R China; [3]Capital Med Univ, Beijing Inst Neurosci, Beijing Ctr Neural Regenerat & Repair, Key Lab Neurodegenerat Dis,Minist Educ, Beijing 100069, Peoples R China
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关键词: ossification of the posterior longitudinal ligament bone morphogenetic protein-4 single nucleotide polymorphisms case control study

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Background Several candidate genes of ossification of the posterior longitudinal ligament (OPLL) susceptibility have been identified, but their polymorphisms account for only a small percent of the total variance. Bone morphogenetic protein-4 (BMP4) is a potent ectopic ossification inducing factor. BMP4 protein and mRNA are present in cells from OPLL patients, but not non-OPLL controls. A single nucleotide polymorphism of 6007C>T(rs17563) of BMP4 has been reported to affect bone density in postmenopausal women. Thus, BMP4 may function in OPLL development. Appropriately, the relationship between BMP4 polymorphisms and OPLL was investigated.Methods A case-control association study investigated the genetic etiology in 179 OPLL patients and 298 non-OPLL controls. Extent of OPLL was analyzed by radiologic examinations. Whether single nucleotide polymorphism (SNP) of -5826G>A(rs1957860) 5′ of the transcription start site and 6007C>T(rs17563) in exon 4 of the BMP4 gene were statistically associated with genetic susceptibility to OPLL in Chinese Han subjects was assessed.Results A significant statistical difference in genotype of 6007C>T polymorphism between male OPLL patients and male controls was evident, and the frequency of "TT" genotype in male OPLL patients was significantly higher than in male controls (P=0.039). The frequency of the "T" allele was also significantly higher in male OPLL subjects than in male controls (P=0.014, 0R=1.57). A significant difference was also observed between the 6007C>T polymorphism and the number of ossified cervical vertebrae in OPLL patients, while no statistical difference was apparent between the -5826G>A polymorphism and OPLL occurrence.Conclusions The T allele in the 6007C>T polymorphism may be a risk factor for male Han Chinese with ossification of the posterior longitudinal ligament in the cervical spine. Chinese Han male patients with CT and TT 6007C>T genotypes have a genetic susceptibility to OPLL and more extensive OPLL in the cervical spine.

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出版当年[2009]版:
大类 | 4 区 医学
小类 | 4 区 医学:内科
最新[2023]版:
大类 | 3 区 医学
小类 | 3 区 医学:内科
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出版当年[2008]版:
Q3 MEDICINE, GENERAL & INTERNAL
最新[2023]版:
Q1 MEDICINE, GENERAL & INTERNAL

影响因子: 最新[2023版] 最新五年平均 出版当年[2008版] 出版当年五年平均 出版前一年[2007版] 出版后一年[2009版]

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