Вісник проблем біології і медицини (Mar 2022)
GENOME-WIDE ASSOCIATION STUDIES OF PREMATURE OVARIAN FAILURE (LITERATURE REVIEW)
Abstract
Genome-wide association study (GWAS) is a field of biomedical research related to the study of associations between genomic variants and phenotypic traits. GWAS is to identify genetic risk factors in order to make a reasonable prediction of susceptibility to the disease, as well as to identify the biological basis of susceptibility to the disease to develop new strategies for prevention and treatment. It is known that 1,0-3,7% of the female population suffers from premature ovarian failure (POF) under the age of 40 and 0.1% under 30. Due to the fact that the etiology of most cases of POF is unclear, and a few decades ago few specific genetic causes of POF were known, the aim of this study was to collect data on full-genomic studies of associations of premature ovarian failure. Based on the analysis of the literature, the following generalizations can be made: GWAS is a modern powerful tool in identifying the causes of diseases, including POF, which require a personalized medical approach. Studies of this type usually compare the genomes of a group of sick people with different phenotypes with the genomes of the control group, which includes similar in age, sex and other characteristics of healthy people. With the help of GWAS it is possible to compare not only the genomes of patients, but also healthy people with different manifestations of the same phenotypic trait. The material for the study are DNA samples of the genome of each participant in the study, in which using microchips look for single nucleotide polymorphisms. If it is possible to identify variants of genomes (more precisely, a set of alleles), which are probably more common in people with this disease, it is said that this variant is associated (or associated) with the disease. Unlike methods that test one or more specific regions of the genome, GWAS uses the complete DNA sequence of the patient. It should be noted that this approach to research does not detect mutations that cause the disease, but only a greater or lesser significant correlation with the disease or other symptom. Today, due to the limited, as a rule, sample size, it is difficult to identify probable genetic candidates for POF. However, this type of research is developing rapidly in the world, its cost will decrease, and the possibility of using such research in medical practice in the near future for individual and accurate approach to the diagnosis of POF should be considered. Currently, the GWAS of the genome of patients with POF in Ukraine is relevant for the detection of known mutations in genes associated with this disease. Given the growing number of women worldwide with premature ovarian failure, the involvement of genomic DNA (GWAS) research from individuals representing major regions of Ukraine will provide data for medical research in a large, little-studied population
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