Analiza wariantów polimorficznych w genie DROSHA w populacji chorych na jaskrę pierwotną otwartego kąta
Autorzy: Anna Walczak, Ireneusz Majsterek, Karolina Przybyłowska-Sygut, Jacek Kabziński, Milena Molasy, Jerzy Szaflik, Jacek P. Szaflik

The Analysis of Genetic Variations in microRNA-related Gene DROSHA in Patients with Primary Open-Angle Glaucoma in the Polish Population

Wydanie 1/2018
str. 64 – 66

Autorzy: Anna Walczak 1 , Ireneusz Majsterek 1 , Karolina Przybyłowska-Sygut 1 , Jacek Kabziński 1 , Milena Molasy 1 , Jerzy Szaflik 2 , Jacek P. Szaflik 3

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


Summary: 

Purpose: The aim of the study was to evaluate the polymorphic variants of single nucleotide polymorphisms of microRNA-related gene DROSHA in relation to the incidence of primary open-angle glaucoma.

Material and methods: Blood samples were obtained from patients with primary open-angle glaucoma (150 subjects) and age-matched healthy controls (159 subjects). The polymorphic variant frequencies of rs6877842 were determined in DNA isolated from the peripheral blood lymphocytes using real-time PCR TaqMan® SNP Genotyping Assay.

Results: The statistical analysis revealed that the genotype GG of DROSHA rs6877842 occurred more frequently in individuals affected by primary
open-angle glaucoma (P < 0.0001). The G allele of the same gene was present mainly in glaucoma patients (P < 0.0001). The presence of both GG and G variants allele are increasing the risk of primary open-angle glaucoma occurrence.

Conclusion: Our experiment revealed that both GG genotype well as the G allele of rs6877842 DROSHA may affect the risk of primary open-angle glaucoma. The analysis of polymorphic variants of other genes involved in miRNA biogenesis could enable identification of people at high risk for glaucoma.