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Published on: August 15, 2019
RUNX2 polymorphisms associated with OPLL and OLF in the Han population
Yang Liu1, Yongfei Zhao, Yu Chen
1Orthopedics Department of Changzheng Hospital, 415 Fengyang Road, Shanghai, 200003, China.
Clinical Orthopaedics and Related Research
|August 20, 2010
Summary
Genetic variations in the RUNX2 gene are linked to spinal ligament ossification in Chinese Han individuals. This finding may aid in early diagnosis of ossification of the posterior longitudinal ligament (OPLL) and ossification of the ligamentum flavum (OLF).
Area of Science:
- Genetics
- Molecular Biology
- Orthopedics
Background:
- Ossification of the spinal ligament, including ossification of the posterior longitudinal ligament (OPLL) and ossification of the ligamentum flavum (OLF), is prevalent in Asian populations.
- The genetic underpinnings of these conditions, involving genes like RUNX2, BMP-2, COL6A1, and VDR, require further elucidation, particularly concerning racial variations in polymorphic loci.
Purpose of the Study:
- To identify polymorphic loci in RUNX2, BMP-2, COL6A1, and VDR associated with OPLL and OLF in Chinese Han patients.
- To determine the relationship between specific genetic loci and the incidence of OPLL and OLF.
Main Methods:
- Analysis of 19 single nucleotide polymorphisms (SNPs) across four candidate genes in 200 Han individuals (82 patients, 118 controls) using the Sequenom system.
- Comparison of genotype distributions and allele frequencies between patient and control groups to identify disease-associated loci.
Main Results:
- Significant differences in SNPs RS1321075 and RS12333172 within the RUNX2 gene were observed between patients with OPLL/OLF and controls.
- These identified RUNX2 loci on chromosome 6 exhibited linkage disequilibrium and formed a haplotype, suggesting a correlation with increased disease incidence.
Conclusions:
- The study suggests that RUNX2 gene variations may contribute to ectopic bone formation in spinal ligaments within the Chinese Han population.
- No significant association was found between polymorphic loci in COL6A1, BMP-2, and VDR and the studied ossification diseases.
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