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Название журнала: Восточно Европейский Научный Журнал, Выпуск:
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Автор: Malachkova N. V.
Department of Eye diseases,
National Pirogov Memorial Medical University, Vinnytsya, Ukraine
Veretelnyk S. P.
Department of Eye diseases
National Pirogov Memorial Medical University, Vinnytsya, Ukraine
, ,
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Анотация: Abstract. As a working hypothesis, the assumption is made that point mutations of non-coding regions of
developmental genes, including FOXC1, contribute significantly to the onset and progression of the primary open-
angle glaucoma (POAG). The study included 93 POAG patients (185 eyes) and 89 volunteers (178 eyes) control
subjects. Analysis of the FOXC1 gene was carried out in a real time polymerase chain reaction (PCR) process
using TaqMan Mutation Detection Assays Thermo Fisher Scientific (USA). For statistical analysis of the results,
MedStat and MedCalc v.15.1 (MedCalc Software bvba) were used. The rs984253 polymorphism of the FOXC1
gene had a strong association with the development of POAG (for genotypes χ2 = 65.83; p = 0.0E-1, for alleles χ2
= 46.52; p = 0.0E-1), but not related to it progression through the stages of the pathological process. The hetero-
zygote T / A increased the chances of development of the POAG by 4.2 times (OR = 4.16; 95% CI 2.66-6.51),
while the homozygote A / A was 1.7 times (OR = 1.69; 95% CI 0.87-3.28). Thus, the possible pathogenic role of
polymorphism in the occurrence of POAG was proved. The carriers of the mutant allele A had significantly in-
creased chance of occurrence of POAG.
Ключевые слова:
Keywords: primary open-angle glaucoma, polymorphism rs984253 of FOXC1 gene.
Данные для цитирования:
Malachkova N. V.
Department of Eye diseases,
National Pirogov Memorial Medical University, Vinnytsya, Ukraine
Veretelnyk S. P.
Department of Eye diseases
National Pirogov Memorial Medical University, Vinnytsya, Ukraine,
.
FOXC1 VARIANT IN PRIMARY OPEN-ANGLE GLAUCOMA PATIENTS. Восточно Европейский Научный Журнал. Медицинские науки. ;
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