Genetic aspects of keratoconus development
- 作者: Bikbov M.1, Usubov E.1, Oganisyan K.1, Lobov S.2, Khasanova R.3, Dzhemileva L.2,4, Khusnutdinova E.2,3
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隶属关系:
- Ufa Eye Research Institute
- Institute of Biochemistry and Genetics, Ufa Scientific Center
- Department of Genetics and Fundamental Medicine
- Department of Human Reproductive Health
- 期: 卷 53, 编号 5 (2017)
- 页面: 519-527
- 栏目: Review and Theoretical Articles
- URL: https://journals.rcsi.science/1022-7954/article/view/188242
- DOI: https://doi.org/10.1134/S1022795417040020
- ID: 188242
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详细
Keratoconus (KC) is the most common form of keratoectasia characterized by changes in corneal topography and its thinning, stretching, and protrusion. The hereditary or genetic theory of keratoconus development is widely recognized. To date, a large number of candidate genes have been investigated in patients with KC. One of the most important of them are the gene encoding a homeodomain-containing protein that belongs to the subfamily of paired-like homeodomain proteins (VSX1), superoxidedismutase 1 (SOD1) gene, and the gene of lysyloxidase (LOX). The linkage analysis reveals over 17 chromosomal regions mutations in which can lead to the development of KC. In families with a hereditary form of keratoconus by GWAS analysis, the association of central corneal thickness (CCT) with a number of genetic loci is revealed. Thus, diverse results of genetic studies and a large number of identified chromosomal regions associated with keratoconus, firstly, show marked genetic heterogeneity of the disease and, secondly, are associated with challenges in DNA diagnosis of this disease. However, there are prerequisites that keratoconus belongs to both hereditary and genetically caused diseases and identified genetic variants are specific both to individual populations and to certain ethnic groups in general.
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作者简介
M. Bikbov
Ufa Eye Research Institute
Email: dzhemilev@mail.ru
俄罗斯联邦, Ufa, 450008
E. Usubov
Ufa Eye Research Institute
Email: dzhemilev@mail.ru
俄罗斯联邦, Ufa, 450008
K. Oganisyan
Ufa Eye Research Institute
Email: dzhemilev@mail.ru
俄罗斯联邦, Ufa, 450008
S. Lobov
Institute of Biochemistry and Genetics, Ufa Scientific Center
Email: dzhemilev@mail.ru
俄罗斯联邦, Ufa, 450054
R. Khasanova
Department of Genetics and Fundamental Medicine
Email: dzhemilev@mail.ru
俄罗斯联邦, Ufa, 450076
L. Dzhemileva
Institute of Biochemistry and Genetics, Ufa Scientific Center; Department of Human Reproductive Health
编辑信件的主要联系方式.
Email: dzhemilev@mail.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450008
E. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Scientific Center; Department of Genetics and Fundamental Medicine
Email: dzhemilev@mail.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450076