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E. Shinbayashi, F. Mabuchi, K. Kashiwagi, Z. Yamagata, H. Iijima, S. Tsukahara; Association Between the BDNF Gene Polymorphism and Normal Tension Glaucoma. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5610.
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The c.196 G/A polymorphism of the brain-derived neurotrophic factor (BDNF) gene has been associated with central nervous diseases such as Alzheimer’s disease. It is therefore possible that the BDNF allele is a common risk factor for neurodegeneration, therefore be associated with glaucoma, especially normal tension glaucoma (NTG). We assessed whether the BDNF c.196 G/A polymorphism is associated with NTG.
Genomic DNA was examined in 193 Japanese patients with NTG and 185 control subjects. The mean age at the time of blood sampling was 63.7 ± 13.5 years (mean ± SD) in the patients with NTG and 65.5 ± 11.5 years in the control subjects. The BDNF c.196 G/A genotype and allele frequencies were determined using a pyrosequencing analysis, and the findings were compared between the NTG patients and control subjects.
No significant difference was observed (P = 0.94, Chi-square test) regarding the BDNF c.196 G/A genotype between the NTG patients (AA: 11.9%, GA: 56.0%, GG: 32.1%) and the control subjects (AA: 10.8%, GA: 56.8%, GG: 32.4%). Additionally, there was no significant difference (P = 0.88, Fisher’s exact test) in the frequencies of the BDNF c.196 G/A alleles between the NTG patients (A allele: 39.9%, G allele: 60.1%) and the control subjects (A allele: 39.2%, G allele: 60.8%).
The BDNF c.196 G/A polymorphism was not found to be associated with NTG. Further studies utilizing in the different ethnic populations are desirable to elucidate the relationship between BDNF and NTG.
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