Accepted_test

Bioinformatics analysis of myopia genes
by Алейникова Анна Витальевна | Орлов Юрий Львович | Первый МГМУ им. И.М.Сеченова Минздрава России (Сеченовский Университет), Москва, Россия | Первый МГМУ им. И.М.Сеченова Минздрава России (Сеченовский Университет), Москва, Россия
Abstract ID: 744
Event: BGRS-abstracts
Sections: [Sym 9] Section “Gene expression and human diseases”

Myopia is a multifactorial disease - i.e. development of this disease depends on both the genetic characteristics of the individual and his lifestyle. The complex and inextricable interaction of genetic factors with the environment leads to the onset of myopia and its further progression. We considered genetic basis of myopia. The literature review was carried out using PubMed, PMC, elibrary.ru scientific literature platforms. OMIM and NCBI GenBank databases were used to identify genes associated with myopia, GeneOntology.org and GWAS publications, published population data. Gene lists were analyzed using resources GeneCards.org, STRING-DB.org, metascape.org. Myopia can be transmitted by autosomal dominant, autosomal recessive, and X-linked recessive inheritance. The most common forms of mild and moderate myopia are transmitted as complex multigenic signs, while severe forms of myopia are transmitted as monogenic defects. Many genes responsible for the development of myopia are characterized by a low frequency or a weak manifestation effect. 26 chromosome loci associated with the manifestation of myopia were identified, in particular, genes COL2A1, COL1A1, COL18A1, FBN1, NYX, CACNA1F, GRM6, LRIT3, RP2, RPGR, ADAMTS10, ADAMTS17, ADAMTS18, VPS13B, OPN1LW, SCO2, ZNF644, CCDC111, LRPAP1, SLC39A5, P4HA2, ARR3, CPSF1, BSG, CTSH, DZIP1, LEPREL1, LOXL3, NDUFAF7, TNFRSF21, XYLT1. The categories of gene ontologies and the functional annotation of these genes were analyzed. At the moment, an effective solution has not yet been created in the treatment of myopia. It is important to continue studying the genetic basis of this pathology in order to find appropriate therapeutic target genes.