22 November 2022

"Genes of myopia"

Five genes determine the risk of myopia during long-term training

Angelina Stolyarova, PCR.news

Myopia often develops at school age, and in countries with an intensive educational system, its occurrence is higher. It is assumed that the predisposition to myopia is determined by a combination of genetic and external factors, including the duration of training, but so far the interactions of these circumstances have not been described well enough.

Scientists from the UK and Japan analyzed the relationship of single-nucleotide polymorphisms, education level and myopia. They used data from more than 340,000 participants of the UK Biobank project of European origin. The average age of the participants was 58 years, they graduated from full-time education at the age of 13-26. About a third of the volunteers received higher education.

To search for genetic variants involved in the gene—environment interaction, the researchers used a two-stage screening strategy. It included a standard genome-wide association search (GWAS) with the identification of single nucleotide polymorphisms (SNPs) and the selection of priority, most significant SNPs.

Using this strategy, scientists identified 25 genetic variants associated with refractive errors, which include myopia. Further analysis revealed five variants that independently affect the association of the risk of myopia with the duration of training. The variants were located next to the genes GJD2, LAMA2, RBFOX1, KCNQ5 and LRRC4C. The carriage of risk alleles was associated with an increased likelihood of myopia for people who received a university education. It is interesting to note that variants of the GJD2 and RBFOX1 genes were previously described as significant in a study of the genotype-myopia relationship conducted on cohorts from East and Southeast Asia (in this region, myopia develops in almost 80% of schoolchildren). At the same time, risk variants were associated with an increased likelihood of developing myopia in people with a high level of education compared with a low one. LAMA2, KCNQ5 and LRRC4C genes are associated with myopia for the first time.

According to the authors, further research is needed to study the biological mechanisms underlying the influence of variants in five genes with the development of myopia. In addition, it is necessary to change the sample in favor of the younger generation from countries with a high level of education.

Article by Clark et al. Education interactions with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia is published in the journal plos Genetics.

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