Wydanie 2/2014
str. 48

Polimorfizm genu BDNF i jego wpływ na progresję jaskry pierwotnej otwartego kąta w populacji polskiej

BDNF Gene Polymorphism and Its Influence on the Progression of Primary Open-angle Glaucoma in a Polish Population

Alicja Nowak1, Karolina Przybylowska-Sygut1, Mira Gacek2, Katarzyna Szymanek2, Jerzy Szaflik2,3, Jacek P. Szaflik2,3, Ireneusz Majsterek1

1 Zakład Chemii i Biochemii Klinicznej Uniwersytetu Medycznego w Łodzi
Kierownik: prof. dr hab. Ireneusz Majsterek
2 Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie
Dyrektor: prof. dr hab. n. med. Jerzy Szaflik
3 Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
Kierownik: prof. dr hab. n. med. Jerzy Szaflik


Summary: Purpose: Glaucoma is one of the major causes of blindness in the world; it is characterized by optic neuropathy of the retinal ganglion cell or retinal nerve fiber. The precise molecular basis of glaucoma has not been completely established. Glaucoma is often associated with high intraocular pressure. Elevated intraocular pressure leads to dysfunction of many cellular processes. One of the effects is ischemia, which causes the disorder of the appropriate conditions transport of neurotrophic molecules, including brain-derived neurotrophic factor. Brain-derived neurotrophic factor is involved in the development of neurons, both their growth and survival. Therefore, the aim of this study was to evaluate a relationship between BDNF gene polymorphism with risk occurrence of primary open-angle glaucoma.
Methods: 170 patients (mean age 73 ± 9) with primary open-angle glaucoma and 175 healthy subjects (mean age 64 ± 14) were enrolled to the study. Genomic DNA was extracted from peripheral blood. Brain-derived neurotrophic factor genotyping was performed using restriction fragment length polymorphism of polymerase chain reaction technique. The polymerase chain reaction product was digested by HpyCH4IV restriction enzyme.
Results: Comparison of the distributions of genotypes and alleles of the rs2030324 polymorphism showed no statistically significant differences between primary open-angle glaucoma patients and controls (p>0.05). There was a statistically significant association of the BDNF gene polymorphism with progression of primary open-angle glaucoma depending on clinical parameter – c/d (p<0.001).
Conclusion: The BDNF gene polymorphisms may be related to progression of primary open-angle glaucoma.

Słowa kluczowe: jaskra pierwotna otwartego kąta, polimorfizm genetyczny, neurodegeneracja, neurotrofina, neurotropowy czynnik pochodzenia mózgowego.

Keywords: primary open-angle glaucoma, gene polymorphism, neurodegeneration, neurotrophin, brain-derived neurotrophic factor.


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