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Updated: Feb 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genetic analysis of the Vitamin D receptor start codon polymorphism (FokI) in cervical vertebra and lumbar spine
Xinyu Hu1,2, Min Liu1, Yanjun Ni2
1Department of Scientific Research, Jiading District Central Hospital Affiliated Shanghai University of Medicine and Health Sciences, Shanghai, China.
Background:
Vitamin D receptor (VDR) FokI polymorphism has been reported to influence the risk of spinal diseases. However, several studies suggest inconsistent results. Therefore, we performed this analysis to reveal the accurate relationship between VDR FokI polymorphism and spinal diseases.
Materials And Methods:
8 articles accord with the strict inclusion and exclusion criteria. 1116 cases and 1263 controls are entered into this analysis. The pooled odds ratios (ORs) and 95% confidence intervals (CI) are calculated to evaluate the association between VDR gene polymorphism and spinal diseases.
Result:
The results suggest that allele F is a risk factor for spinal diseases and the difference is significant (F vs. f: OR = 1.151, 95% CI, 1.020-1.300). For the genotype analysis of VDR FokI, no statistical differences exist in the models of heterozygote comparison (Ff vs. ff), homozygote comparison (FF vs. ff) and dominant model (FF + Ff vs. ff) (p > 0.05). However, in recessive model (FF vs. Ff + ff), there is a significant association between VDR polymorphism and spinal diseases (OR = 1.209, 95% CI, 1.017-1.436). In subgroup analysis, the results show that allele F is a risk factor for spinal diseases in each estimation. In hospital-based subgroup, the significant differences exist in FF vs. ff and FF vs. Ff + FF models. In degenerative spine diseases group, the results are consistent with that of overall studies.
Conclusions:
According to results of this meta-analysis, allele F is associated with the increased risk of spinal diseases. FF genotype may contribute to the susceptibility of spinal diseases. Therefore, VDR FokI polymorphism is related with spinal diseases.
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