scholarly journals The role of genetic factors in the pathogenesis of primary open-angle glaucoma. Part 1. Connective tissue

2021 ◽  
Vol 14 (1) ◽  
pp. 89-100
Author(s):  
Anastasiia N. Zhuravleva ◽  
Maria O. Kirillova ◽  
Marina V. Zueva ◽  
Vitaliy V. Kadyshev
Keyword(s):  
Connective Tissue ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Entire Body ◽  
Open Angle ◽  
Analytical Review ◽  
Genetic Mechanisms ◽  
Preclinical Diagnosis ◽  
The Relationship

The article presents an analytical review of works devoted to molecular and genetic studies in primary open-angle glaucoma from the perspective of the concept of hereditary inferiority of the connective tissue of the eye (scleral component), and the entire body as a whole, as triggers in the development of the disease. The relationship between the main theories of the pathogenesis of glaucoma optical neuropathy and the determining role of molecular and genetic mechanisms of specific changes in the eye tissue is shown. The clinical features of primary open-angle glaucoma in patients with a family history are analyzed. Potentially new directions for preclinical diagnosis of glaucoma and pathogenetically oriented therapy are proposed.

scholarly journals Gene polymorphisms associated with the remodeling of the connective tissue as markers of preclinical diagnosis of primary open-angle glaucoma in patients with hereditary predisposition

2021 ◽  
pp. 26-33
Author(s):  
М.О. Кириллова ◽  
А.Н. Журавлева ◽  
А.В. Марахонов ◽  
Н.В. Петрова ◽  
Н.В. Балинова ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Gene Polymorphisms ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Molecular Genetic ◽  
Ophthalmological Examination ◽  
Open Angle ◽  
Hereditary Predisposition ◽  
Group I ◽  
Preclinical Diagnosis

Цель исследования - изучение взаимосвязи полиморфизмов генов, кодирующих структуру регуляторных белков синтеза и деградации экстрацеллюлярного матрикса соединительной ткани, с развитием первичной открытоугольной глаукомы (ПОУГ). Обследовано 144 человека (мужчин - 56, женщин - 88), средний возраст 59,3±6,2, не состоящих в родстве, русской национальности. Группу I составили 40 человек с подозрением на глаукому, в группу II вошли 40 человек с диагнозом ПОУГ I-II стадий на одном или обоих глазах. Пациенты обеих групп имели отягощенный семейный анамнез по глаукоме. Группу контроля составили 64 относительно здоровых человека. Всем пациентам проведены стандартные и специальные офтальмологические, а также молекулярно-генетические исследования. Носительство генотипа GT и аллеля Т полиморфизма rs8136803 (TIMP3), генотипа AG и аллеля A полиморфизма rs652438 (MMP12), генотипа GA и аллеля A полиморфизма rs3825942 (LOXL1) ассоциировано с развитием ПОУГ. Ассоциации полиморфизма rs1048661 гена LOXL1 с развитием ПОУГ не выявлено. Проведенное исследование указывает на необходимость формирования алгоритма обследования пациентов с ПОУГ и подозрением на глаукому с включением молекулярно-генетических исследований. Objective: to study gene polymorphisms associated with the remodeling of the connective tissue of the eye as markers of preclinical diagnosis of primary open-angle glaucoma in patients with hereditary predisposition. Materials and methods: a total of 144 persons (56 men, 88 women), average age 59.3±6.2, were examined, not related, of Russian nationality. Group I consisted of 40 individuals suspected to affected by glaucoma, group II included 40 individuals with a diagnosis of I-II stage POAG in one or both eyes. Patients of both groups had a complicated family history of glaucoma. The control group consisted of 64 relatively healthy individuals. All patients underwent standard and special ophthalmological examination, as well as molecular genetic testing. Results: carriage of GT genotype and T allele of rs8136803 polymorphism (TIMP3), AG genotype and A allele of rs652438 polymorphism (MMP12), GA genotype and A allele of rs3825942 polymorphism (LOXL1) was associated with the development of POAG. The rs1048661 polymorphism of the LOXL1 gene cannot be considered as a marker of POAG development. Conclusion: the study indicates the need to develop a correct algorithm for diagnosing patients with POAG and suspected glaucoma with the inclusion of molecular genetic studies.

scholarly journals Role of Fibronectin in Primary Open Angle Glaucoma

Cells ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1518 ◽  
Author(s):  
Jennifer A. Faralli ◽  
Mark S. Filla ◽  
Donna M. Peters
Keyword(s):  
United States ◽  
Trabecular Meshwork ◽  
Vision Loss ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
The United States ◽  
Open Angle ◽  
Cell Matrix ◽  
Fibronectin Fibrils

Primary open angle glaucoma (POAG) is the most common form of glaucoma and the 2nd most common cause of irreversible vision loss in the United States. Nearly 67 million people have the disease worldwide including >3 million in the United States. A major risk factor for POAG is an elevation in intraocular pressure (IOP). The increase in IOP is believed to be caused by an increase in the deposition of extracellular matrix proteins, in particular fibronectin, in a region of the eye known as the trabecular meshwork (TM). How fibronectin contributes to the increase in IOP is not well understood. The increased density of fibronectin fibrils is thought to increase IOP by altering the compliance of the trabecular meshwork. Recent studies, however, also suggest that the composition and organization of fibronectin fibrils would affect IOP by changing the cell-matrix signaling events that control the functional properties of the cells in the trabecular meshwork. In this article, we will discuss how changes in the properties of fibronectin and fibronectin fibrils could contribute to the regulation of IOP.

scholarly journals Potential role of lysosomal dysfunction in the pathogenesis of primary open angle glaucoma

Autophagy ◽  
2009 ◽  
Vol 5 (1) ◽  
pp. 122-124 ◽  
Author(s):  
Paloma B. Liton ◽  
Yizhi Lin ◽  
Pedro Gonzalez ◽  
David L. Epstein
Keyword(s):  
Potential Role ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Lysosomal Dysfunction

scholarly journals Evaluation of the contribution of matrix metalloproteinase gene polymorphism to the formation of glaucoma in men (analysis of three-locus gene models)

2020 ◽  
pp. 48-49
Author(s):  
Д.И. Свинарева
Keyword(s):  
Risk Factor ◽  
Intraocular Pressure ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Male Gender ◽  
Eye Disease ◽  
Open Angle ◽  
Is Research ◽  
The Matrix

Первичная открытоугольная глаукома (ПОУГ) - это хроническое заболевание глаз, сопровождающееся повышением внутриглазного давления и характерными изменениями поля зрения. Мужской пол является фактором риска развития глаукомы. Целью исследования явилось изучение роли трехлокусных моделей с участием 8 полиморфных локусов генов матриксных металлопротеиназ (rs679620 ММР3, rs1799750 ММР1, rs2250889, rs3918249, rs17576, rs3918249, rs3787268 и rs17577 ММР9) в формировании ПОУГ у мужчин. Нами выявлено 7 трехлокусных моделей SNP×SNP взаимодействий, определяющих подверженность к развитию ПОУГ у мужчин. Primary open-angle glaucoma (POAG) is a chronic eye disease accompanied by an increase in intraocular pressure and specific changes in the visual field. Male gender is a risk factor for glaucoma. The aim of the study is research the role of three-locus models with the participation of 8 polymorphic loci of the matrix metalloproteinases genes (rs679620 MMP3, rs1799750 MMP1, rs2250889, rs3918249, rs17576, rs3918889 and rs17577 MMP9) in the POAG formation among men. We have identified 7 three-locus models of SNP × SNP interactions that determine susceptibility to the development of POAG in men.

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