{"paper_id":"53ea2da5-d27b-4394-8a59-21c238e5d80e","body_text":"Published online Mar 31, 2012.\nhttps://doi.org/10.4184/jkss.2012.19.1.1\nAssociation of Estrogen Receptor 2(ESR 2) Gene Polymorphisms with Ossification of the Posterior Longitudinal Ligament of the Spine\nAbstract\nStudy Design\nGenetic screening of the estrogen receptor 2 (ESR2) genes in patients with ossification of the posterior longitudinal ligament (OPLL).\nObjective\nWe studied the relationships between ESR2 gene polymorphisms and OPLL to understand the pathophysiology of OPLL.\nSummary of Literature Review\nThe OPLL has a strong genetic component. Several familial surveys and human leukocyte antigen (HLA) haplotype studies reveal that genetic background is an important component in the occurrence of OPLL and a large number of gene analysis studies were utilized to clarify the susceptible gene for OPLL, including COL11A2, BMP-2, TNF-α, NPPS, leptin receptor, transforming growth factor (TGF)-β, Retinoic X receptor, ER, IL-1, PTH, and VDR have been performed.\nMaterials and Method\nGenomic deoxyribonucleic acid (DNA) samples obtained from 164 patients (93 men and 71 women) with OPLL and 219 control subjects, without the disease (105 men and 114 women) were amplified by polymerase chain reaction, and polymorphism genotypes were determined by the restriction endonuclease digestion. The distribution of genotypes was compared between the patients with the disease and the control subjects.\nResults\nThe polymorphism of ESR2 [rs1256049, exon6, Val328Val, p=0.018, odd ratio (OR)=2.41, 95 confidence interval (CI)=1.15-5.02 in the recessive model] only showed statistically significant association between the control and the OPLL groups. The rest SNPs of ESR2 did not show any significant differences between the control and the OPLL groups.\nConclusions\nEstrogen receptor 2 (ESR2) gene polymorphisms (rs 1256049) was associated with OPLL. In future studies, we will perform target SNP chip between OPLL and candidate gene.\nFig. 1\nSummary, genomic regions, transcripts, and products of ESR 2 gene\nFig. 2\n(A) location of ESR 2 gene (B) comparison between ESR 1 and ESR 2 gene\nTable 1\nCharacteristics of Study Subjects (ESR2)\nTable 2\nCase-Control Association Study of ESR 2 gene in Patients with OPLL\nReferences\n-\nTaketomi E, Sakou T, Matsunaga S, Yamaguchi M. Family study of a twin with ossification of the posterior longitudinal ligament in the cervical spine. Spine (Phila Pa 1976) 1992;17 3 Suppl:S55–S56.\n-\n-\nHamanishi C, Tan A, Yamane T, Tomihara M, Fukuda K, Tanaka S. Ossification of the posterior longitudinal ligament. Autosomal recessive trait. Spine (Phila Pa 1976) 1995;20:205–207.\n-\n-\nKoga H, Hayashi K, Taketomi E, et al. 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) 1996;21:469–473.\n-\n-\nInoue I, Ikeda R, Tsukahara S. Current topics in pharmacological research on bone metabolism: Promyelotic leukemia zinc finger (PLZF) and tumor necrosis factor-alpha-stimulated gene 6 (TSG-6) identified by gene expression analysis play roles in the pathogenesis of ossification of the posterior longitudinal ligament. J Pharmacol Sci 2006;100:205–210.\n-\n-\nTahara M, Aiba A, Yamazaki M, et al. 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) 2005;30:877–880.\n-\n-\nWang PN, Chen SS, Liu HC, Fuh JL, Kuo BI, Wang SJ. Ossification of the posterior longitudinal ligament of the spine. A case-control risk factor study. Spine (Phila Pa 1976) 1999;24:142–144.\n-\n-\nSims NA, Clément-Lacroix P, Minet D, et al. A functional androgen receptor is not sufficient to allow estradiol to protect bone after gonadectomy in estradiol receptor-deficient mice. J Clin Invest 2003;111:1319–1327.\n-","source_license":"CC0","license_restricted":false}