Association of Bone Morphogenic Protein Receptor IA (BMPIA) Gene Polymorphism with Ossification of Posterior Longitudinal Ligament (OPLL) of the Cervical Spine in a Chinese Han Population

Study design: A case-control study using radiograph findings and the PCR assay with regard to the susceptibility and the severity of ossification of posterior longitudinal ligament of the spine (OPLL). Objective: To analyze whether the single nucleotide polymorphisms in the Bone Morphogenetic Protein Receptor IA (BMPIA) gene predisposed to increased the frequency and severity of OPLL. Methods: Analysis of 292 OPLL patients and 586 non-OPLL controls was performed. Radiographs of the cervical spine were analyzed to determine whether OPLL was present and to what degree. Genomic DNA was extracted from all participants. Polymorphisms of the BMPRIA gene were analyzed using the PCR assay. The association of the polymorphisms with the development and extent of OPLL were statistically evaluated. Results: Significant associations were found between two single nucleotide polymorphisms (rs34755052, rs11528010) and the existence of OPLL in BMPRIA genes. Both of rs34755052 (C/T) and rs11528010 (C/A) were more frequent in patients with OPLL. Regarding the rs11528010 (C/A), patient with A Allele had a significantly greater number of ossified cervical vertebrae compared with patients without the A allele, but rs34755052 didn’t show the similar tendency. Conclusion: The present results suggested that rs34755052(C/T) was associated with the occurrence of OPLL, but not associated with the severity of OPLL. rs11528010(C/A) was associated with more extensive OPLL and the frequency with which it occured.