Abstract
The purpose of this study was to investigate single nucleotide polymorphisms (SNPs) of the BH3 interacting domain death agonist (BID) gene as a risk factor in Korean patients with ossification of the posterior longitudinal ligament (OPLL). To investigate the genetic association, two coding SNPs (rs8190315, Ser10Gly; rs2072392, Asp60Asp) of BID were genotyped in 157 OPLL patients and 209 control subjects. SNPStats, SNPAnalyzer Pro, Helixtree, and Haploview 4.2 programs were used for association analysis. Multiple logistic regression models (codominant, dominant, and recessive) were calculated for the odds ratios (ORs), 95 % confidence intervals (CIs), and corresponding P values. For multiple testing, Bonferroni correction was performed. After Bonferroni correction, genotype analysis of both rs8190315 and rs2072392 showed association between the OPLL group and the control group in the codominant model (P = 0.042, OR 1.86, 95 % CI 1.10–3.15). A complete linkage disequilibrium block was estimated between the two SNPs. Both of the G allele of rs8190315 and C allele of rs2072392 were strongly associated with an increased risk in the development of OPLL (P = 0.0052, OR 2.66, 95 % CI 1.51–4.68). These results suggest that BID is associated with OPLL, and both the G allele of a missense SNP (rs8190315, Ser10Gly) and C allele of a synonymous SNP (rs2072392, Asp60Asp) are risk factors for the development of OPLL in Korean population.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Wang H, Yang ZH, Liu DM et al (2008) Association between two polymorphisms of the bone morpho-genetic protein-2 gene with genetic susceptibility to ossification of the posterior longitudinal ligament of the cervical spine and its severity. Chin Med J (Engl) 121:1806–1810
Taketomi E, Sakou T, Matsunaga S, Yamaguchi M (1992) Family study of a twin with ossification of the posterior longitudinal ligament in the cervical spine. Spine (Phila Pa 1976) 17:S55–S56
Matsunaga S, Yamaguchi M, Hayashi K, Sakou T (1999) Genetic analysis of ossification of the posterior longitudinal ligament. Spine (Phila Pa 1976) 24:937–938 discussion 939
Terayama K (1989) Genetic studies on ossification of the posterior longitudinal ligament of the spine. Spine (Phila Pa 1976) 14:1184–1191
Sakou T, Taketomi E, Matsunaga S et al (1991) Genetic study of ossification of the posterior longitudinal ligament in the cervical spine with human leukocyte antigen haplotype. Spine (Phila Pa 1976) 16:1249–1252
Maeda S, Ishidou Y, Koga H et al (2001) Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 16:948–957
Kawaguchi Y, Furushima K, Sugimori K, Inoue I, Kimura T (2003) Association between polymorphism of the transforming growth factor-beta1 gene with the radiologic characteristic and ossification of the posterior longitudinal ligament. Spine (Phila Pa 1976) 28:1424–1426
Ogata N, Koshizuka Y, Miura T et al (2002) Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity. Spine (Phila Pa 1976) 27:1765–1771
Tahara M, Aiba A, Yamazaki M et al (2005) The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms. Spine (Phila Pa 1976) 30:877–880 discussion 881
Koga H, Hayashi K, Taketomi E et al (1996) Restriction fragment length polymorphism of genes of the alpha 2(XI) collagen, bone morphogenetic protein-2, alkaline phosphatase, and tumor necrosis factor-alpha among patients with ossification of posterior longitudinal ligament and controls from the Japanese population. Spine (Phila Pa 1976) 21:469–473
Sato R, Uchida K, Kobayashi S et al (2007) Ossification of the posterior longitudinal ligament of the cervical spine: histopathological findings around the calcification and ossification front. J Neurosurg Spine 7:174–183
Wang K, Yin XM, Chao DT, Milliman CL, Korsmeyer SJ (1996) BID: a novel BH3 domain-only death agonist. Genes Dev 10:2859–2869
Li H, Zhu H, Xu CJ, Yuan J (1998) Cleavage of BID by caspase 8 mediates the mitochondrial damage in the Fas pathway of apoptosis. Cell 94:491–501
Gaudet MM, Milne RL, Cox A et al (2009) Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 18:1610–1616
Tsuyama N (1984) Ossification of the posterior longitudinal ligament of the spine. Clin Orthop Relat Res 184:71–84
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265
Lee JH, Soung YH, Lee JW et al (2004) Inactivating mutation of the pro-apoptotic gene BID in gastric cancer. J Pathol 202:439–445
Conflict of interest
The authors declare that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Additional information
Jinmann Chon and Jang-Hyeok Hong contributed equally to this work.
Rights and permissions
About this article
Cite this article
Chon, J., Hong, JH., Kim, J. et al. Association between BH3 interacting domain death agonist (BID) gene polymorphism and ossification of the posterior longitudinal ligament in Korean population. Mol Biol Rep 41, 895–899 (2014). https://doi.org/10.1007/s11033-013-2933-4
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11033-013-2933-4