Wydanie 1/2012
str. 81

Analiza związku polimorfizmu -877 T/C genu APP z ryzykiem występowania jaskry pierwotnej otwartego kąta w populacji polskiej

Association Analysis of the -877T/C Polymorphism of the APP Gene with a Risk Occurrence of Primary Open-angle Glaucoma in a Polish Population

Alicja Nowak1, Ireneusz Majsterek1, Karolina Przybyłowska1, Mira Gacek2, Jerzy Szaflik2, Jacek P. Szaflik2

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


Summary: Purpose: Glaucoma is a major cause of blindness in the world, which 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. However, it may be possible that β-amyloid, the main protein of the pathogenesis of Alzheimer’s disease, plays a role in the development of glaucoma. Neurodegenerative properties of β-amyloid may be the cause of progressive atrophy of the optic nerve in patients with glaucoma. Mainly, the toxic activity of β-amyloid are associated with oxidative damage and impaired ionic balance in neurons. Therefore, the aim of this study was to evaluate a relationship between the -877T/C polymorphism of the APP gene with risk occurrence of primary open-angle glaucoma.
Methods: The study consisted of 163 patients with POAG (mean age 74 ± 10) and 167 healthy subjects (mean age 64 ± 16). Genomic DNA was extracted from peripheral blood. APP genotyping was performed using restriction fragment length polymorphism of polymerase chain reaction technique (PCR-RFLP). The PCR product was digested by TaqI restriction enzyme.
Results: We showed no statistically difference in the allele and genotype frequency in -877T/C polymorphism of the APP gene between POAG patients and control subjects. The minor allele C frequency was 3% in control subjects and 2% in POAG patients.
Conclusion: The -877T/C polymorphism of the APP gene may not play a role in the pathogenesis of primary open-angle glaucoma.

Słowa kluczowe: jaskra pierwotna otwartego kąta, polimorfizm genetyczny, białko prekursora amyloidu, β-amyloid (Aβ), APP.

Keywords: Primary open-angle glaucoma, gene polymorphism, amyloid precursor protein, amyloid beta protein (Aβ), APP.


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