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Polymorphism of endothelial nitric oxide synthase T786C in patients with normal tension glaucoma and primary open angle glaucoma
Author(s) -
LUKASIK U,
KOSIORJARECKA E,
WROBELDUDZINSKA D,
KUSMIREK K,
KOCKI J,
ZARNOWSKI T
Publication year - 2012
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2012.2466.x
Subject(s) - open angle glaucoma , normal tension glaucoma , ophthalmology , glaucoma , nitric oxide synthase , endothelial nitric oxide synthase , medicine , nitric oxide , enos
Purpose Comparison of allelic variant frequency of eNOS gene T786C in patients with normal tension glaucoma and primary open angle glaucoma. Methods The studied group constituted 97 patients with NTG and 49 patients with POAG. DNA was isolated from peripheral blood and T786C polymorphism was studied by RT‐PCR method. Results In NTG patients TT genotype was present in 36% patients, TC in 52.6% and CC in 11.3%. In POAG patients genotype TT was detected in 42.9% persons, TC in 48.9% and CC in 8.2%. The difference in allelic frequency was not statistically significant (p=0.75). In women with NTG the allelic frequency was similar to men (respectively, in women: TT‐35.9%, TC‐48.4%, CC‐15.6% and men TT‐36.4%, TC‐60.6%, CC‐3%; p=0.92). In group of women with POAG the allelic frequency was also similar to men (in women: TT‐41.2%, TC‐50%, CC‐8.8% and men: TT‐46.7%, TC‐46.7% a CC‐6.7%; p=0.09). Comparing the difference in genotype frequencies between both glaucoma types no significant difference was detected in women (p=0.9) and men (p=0.7). The CC genotype was most frequently present in NTG women (15.6%), comparing to NTG men (3%) and POAG women (8.8%). Conclusion The frequency of particular genotypes of T786C polymorphism of eNOS gene did not significantly differ in patients with NTG and POAG, yet the mutated allelic form is most frequent in NTG women.