©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 13 (1): 2240-2247 (2014) Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossifcation of the posterior longitudinal ligament of the cervical spine in Korean patients and family members K.H. Kim, S.U. Kuh, J.Y. Park, S.J. Lee, H.S. Park, D.K. Chin, K.S. Kim and Y.E. Cho Department of Neurosurgery, Spine and Spinal Cord Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea Corresponding author: Y.E. Cho E-mail: yecho@yuhs.ac Genet. Mol. Res. 13 (1): 2240-2247 (2014) Received January 9, 2013 Accepted January 10, 2014 Published March 31, 2014 DOI http://dx.doi.org/10.4238/2014.March.31.4 ABSTRACT. COL6A1 and BMP-2 genes have been implicated in ossifcation of the posterior longitudinal ligament (OPLL) susceptibility in Japanese and Chinese Han populations. However, no study has yet investigated the DNA of unaffected family members of patients with OPLL. This study investigated differences in genetic polymorphisms of BMP-2 and COL6A1 between Korean patients with OPLL and their family members (with and without OPLL). A total of 321 subjects (110 patients with OPLL and 211 family members) were enrolled in the study. Associations between two single nucleotide polymorphisms (SNPs) of the BMP-2 gene (Ser37Ala and Ser87Ser) and two SNPs of COL6A1 [promoter (-572) and intron 33 (+20)] with susceptibility to OPLL of the cervical spine were investigated between the two groups (OPLL+