Association of Estrogen Receptor 2(ESR 2) Gene Polymorphisms with Ossification of the Posterior Longitudinal Ligament of the Spine

Ki Tack Kim, Sang‐Hun Lee, Yoon Ho Kwack, Eon Seok Son, Kyoung Jun Park, Duk Hyun Kim
In: Journal of Korean Society of Spine Surgery · 2012 · vol. 19(1) , pp. 1 · doi:10.4184/jkss.2012.19.1.1 · W2023838579
article OA: hybrid CC0
🔓 Open OA copy Full text JSON View on OpenAlex View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-13 ⓘ

This study investigated ESR2 gene polymorphisms and found an association between the rs1256049 variant and ossification of the posterior longitudinal ligament of the spine.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by claude@2026-06, 2026-06-13 · read from full text ⓘ

This case-control genetic study examined associations between estrogen receptor 2 (ESR2) gene polymorphisms and ossification of the posterior longitudinal ligament (OPLL) in 164 OPLL patients and 219 controls, using PCR-based genotyping followed by restriction endonuclease digestion. The authors found that only one ESR2 single-nucleotide polymorphism, rs1256049 (exon6, Val328Val), differed significantly between groups, showing an association in the recessive model (p=0.018; OR=2.41; 95% CI 1.15–5.02), while other ESR2 SNPs showed no significant differences. The key limitation noted is that significance was limited to a single variant, and the study calls for future targeted SNP-chip work to clarify the genetic landscape. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

Abstract

† Study Design: Genetic screening of the estrogen receptor 2 (ESR2) genes in patients with ossification of the posterior longitudinal ligament (OPLL). Objective: We studied the relationships between ESR2 gene polymorphisms and OPLL to understand the pathophysiology of OPLL. Summary of Literature Review: The 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. Materials and Method: Genomic 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. Results: The 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. Conclusions: Estrogen 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.
Full text 3,974 characters · extracted from oa-html · 6 sections · click to expand

Abstract

Study Design Genetic screening of the estrogen receptor 2 (ESR2) genes in patients with ossification of the posterior longitudinal ligament (OPLL).

Objective

We studied the relationships between ESR2 gene polymorphisms and OPLL to understand the pathophysiology of OPLL. Summary of Literature Review The 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.

Materials

and Method Genomic 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.

Results

The 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.

Conclusions

Estrogen 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. Fig. 1 Summary, genomic regions, transcripts, and products of ESR 2 gene Fig. 2 (A) location of ESR 2 gene (B) comparison between ESR 1 and ESR 2 gene Table 1 Characteristics of Study Subjects (ESR2) Table 2 Case-Control Association Study of ESR 2 gene in Patients with OPLL

References

- Taketomi 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. - - Hamanishi 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. - - Koga 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. - - Inoue 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. - - Tahara 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. - - Wang 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. - - Sims 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. -

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-html ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Citation neighborhood (sparse)

Too few in-corpus citations on either side for a chart; here are the lists.

Cites (1)

References (31)

Source provenance

openalex
last seen: 2026-06-10T17:14:06.276822+00:00
License: CC0 · commercial use OK