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BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm
Vasileios Siokas1, Dimitrios Kardaras2, Athina-Maria Aloizou1
1Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, University of Thessaly, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
Neuromolecular Medicine
|December 7, 2018
Summary
The brain-derived neurotrophic factor (BDNF) gene rs6265 variant is linked to an increased risk of developing blepharospasm (BSP). Higher loads of the "A" allele indicate a greater probability of developing this condition.
Area of Science:
- Neurogenetics
- Molecular Biology
- Clinical Neurology
Background:
- Blepharospasm (BSP) is a focal dystonia with complex genetic underpinnings.
- The brain-derived neurotrophic factor (BDNF) gene and its single nucleotide polymorphism rs6265 have been investigated for their role in BSP, but findings remain debated.
Purpose of the Study:
- To evaluate the association between the BDNF rs6265 variant and the risk of developing blepharospasm.
- To perform a meta-analysis combining current and previous study data to clarify the genetic contribution of rs6265 to BSP.
Main Methods:
- Genotyping of the rs6265 variant in 206 BSP patients and 206 healthy controls.
- Statistical analysis including dominant inheritance models and mutational load analysis (ORg).
- Meta-analysis pooling results from this study with previously published data.
Main Results:
- The rs6265 variant showed a significant association with increased BSP risk in the dominant model (OR 1.52, p=0.044).
- Higher "A" allele load of rs6265 correlated with a higher probability of developing BSP (ORg 1.48).
- Meta-analysis confirmed the association (dominant model: OR 1.26, p=0.03) and the dose-dependent effect of the "A" allele (ORg 1.26).
Conclusions:
- The BDNF rs6265 variant is a significant genetic risk factor contributing to blepharospasm development.
- This study reinforces the role of BDNF rs6265 in the genetic susceptibility to BSP.
- BDNF and its rs6265 polymorphism are likely key factors in the pathophysiology of blepharospasm.
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