Search for genetic markers for precise diagnostics of keratoconus

Skorodumova L.O.1 , Belodedova A.V.2, Sharova E.I.1, Malyugin B.E.2

1. Federal Research and Clinical Center of Physical-Chemical Medicine, Moscow, Russia
2. Fyodorov Eye Microsurgery Complex Federal State Institution, Moscow, Russia
Section: Review
DOI: 10.18097/PBMC20196501009      PubMed Id: 30816092
Year: 2019  Volume: 65  Issue: 1  Pages: 9-20
Keratoconus is a chronic disorder of the cornea, characterized by its progressive thinning, stretching, and conical protrusion. Diagnostics of subclinical keratoconus, as well as its early stages (forme fruste), is a complex problem. The presence of these forms of keratoconus in a patient is one of the reasons for the development of keratectasia after laser refractive surgery. Currently, the role of genetic factors in keratoconus development has been proven. This indicates the possibility of diagnostics of subclinical and forme fruste keratoconus using genetic markers. Knowledge about the patient's genetic susceptibility to keratoconus would allow correcting the tactics of treatment of refractive anomalies and avoiding serious side effects. The studies of causal mutations indicate the genetic heterogeneity of keratoconus, which complicates the development of a diagnostic panel. Selection of candidate variants from the currently known ones based on clear criteria may be one of the approaches for diagnostic markers search. In this review, we have analyzed articles on keratoconus markers in order to form a list of candidate variants for genotyping in the Russian population. The selection criteria took into account the complexes of symptoms in which a marker was found, populations in which a particular marker was investigated, the presence and results of replication studies. The analysis included markers in VSX1, SOD1, ZEB1, LOX, CAST, DOCK9, TGFBI, HGF, MAP3K19, KCND3, COL4A3, COL4A4, COL5A1, FNDC3B, FOXO1, BANP-ZNF469, MPDZ-NF1B, WNT10A genes. Based on the results of the analysis, the following candidate variants were selected for genotyping in the Russian population of patients with keratoconus: rs1536482 and rs7044529 in the COL5A1 gene, rs5745752 and rs2286194 in the HGF gene, rs4954218 in the MAP3K19 gene, rs4839200 near the KCND3 gene, rs2721051 near the FOXO1 gene, rs1324183 between the MPDZ and the NF1B genes, and rs121908120 in the WNT10A gene.
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Keywords: keratoconus, genetic markers, VSX1, SOD1, ZEB1, LOX

Skorodumova, L. O., Belodedova, A. V., Sharova, E. I., Malyugin, B. E. (2019). Search for genetic markers for precise diagnostics of keratoconus. Biomeditsinskaya Khimiya, 65(1), 9-20.
This paper is also available as the English translation: 10.1134/S1990750819030090
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