Abstract
Background: Many epidemiological and experimental studies have established that myopia is caused by a complex interaction between common genetic and environmental factors. The objective of this study was to describe and compare the allelic and genotypic frequencies of the rs524952 (GJD2), rs8000973 (ZIC2), rs1881492 (CHRNG), rs1656404 (PRSS56), rs235770 (BMP2), and rs7744813 (KCNQ5) SNPs (single-nucleotide polymorphism) between responder and nonresponder patients who had undergone a two-year treatment with lenses for myopia control. Method: Twenty-eight participants from the MiSight Assessment Study Spain (MASS), who had received treatment for myopia control for two years with MiSight contact lenses, were examined. The criteria for better/worse treatment response was the change in the axial length (< / ≥ 0.22 mm two years after the treatment). The clinical procedure consisted of the extraction of a saliva sample, and the participants also underwent an optometric examination. Genetic data were analyzed using SNPStats software (Catalan Institute of Oncology, Barcelona, Spain), and statistical analysis was performed using SPSS v.25 (SPSS Inc., Chicago, IL, USA). Demographic variables were analyzed using the Student’s t-test. Results: The T allele, the one with the lowest frequency, of the “rs235770” SNP was associated with a better treatment response [AL/CR (axial length/corneal radius): OR = 3.37; CI = 1.079–10.886; SE (spherical equivalent): OR = 1.26; CI: = 0.519–57.169; p = 0.019). By performing haplotype analysis, significant differences were found between the rs235770…rs1881492 and rs235770–rs1656404 polymorphisms. The latter presented a strong linkage disequilibrium with each other (r2 ≥ 0.54). Conclusion: The result of lens therapies for myopia control could vary depending on genetic variants. Studies with a larger sample are needed to confirm the results presented in this pilot study.
Highlights
Myopia is the most common refractive error globally
Since the appearance of the first genome-wide association studies (GWAS) in 2009, many common genetic variants that are associated with myopia and refractive error have been successfully identified [4]
The results showed an association with the axial length (AL)/corneal radius (CR) ratio in 9 of the 39 SNPs in children under 10 years old, remaining in 3 SNPs after Bonferroni correction; 10 SNPs remaining in 5 in the group aged between 10 and 25; and 31 SNPs that remained in 19 in the adult group
Summary
Myopia is the most common refractive error globally. It is considered a public health problem that results in significant visual loss and is associated with a wide variety of ocular pathologies [1].Nowadays, pathological myopia is one of the leading causes of visual impairment inAsian and Occidental populations. Myopia is the most common refractive error globally. It is considered a public health problem that results in significant visual loss and is associated with a wide variety of ocular pathologies [1]. Many epidemiological and experimental studies have analyzed the role of environmental and genetic factors in the development of myopia. Environmental risk factors can only explain a limited proportion of the overall variance, whereas the importance of genetic factors in the susceptibility to myopia is widely known [3]. Since the appearance of the first genome-wide association studies (GWAS) in 2009, many common genetic variants that are associated with myopia and refractive error have been successfully identified [4]
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