Aims: To investigate the effect of the insulin-like growth factor-1 (IGF-1) gene's rs6214 and rs5742632 polymorphisms on IGF-1 expression levels and their association with different types of myopia in Egyptian patients.
Methods: A case-control format was used that included 272 patients with myopia and 136 controls. The IGF-1 gene rs6214 and rs5742632 polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analyses. IGF-1 levels were measured by an enzyme-linked immunosorbent assay.
Results: In patients with high-grade myopia, the frequencies of the IGF-1 rs6214 GA and AA genotypes, and the A allele were significantly increased compared to the control group: 41.9% vs. 33.8%, 17.7% vs. 8.9%, and 38.9% vs. 25.7%, respectively. Subjects with the GA and AA genotypes and carriers of A allele were significantly more likely to have high-grade myopia: odds ratios (OR) = 1.75, 95% confidence interval (CI) = 1.03-2.9, and p = 0.03; OR = 2.8, 95% CI = 1.3-6.0, and p = 0.003; and OR = 1.8, 95% CI = 1.25-2.61, and p = 0.001, respectively. A nonsignificant association of the IGF-1 gene rs5742632 polymorphism with the two myopia groups was also observed. The IGF-1 levels were significantly increased in patients with high-grade myopia and simple myopia compared to the control group (p < 0.05). In addition, our results showed a nonsignificant association of the IGF-1 (rs6214-rs5742632) haplotype with either simple myopia or high-grade myopia.
Conclusions: We found a significant association of the IGF-1 gene rs6214 polymorphism in Egyptian patients with simple myopia and high-grade myopia. IGF-1 levels were significantly increased in relation to the IGF-1 rs6214 genotypes, while a nonsignificant association was found between IGF-1 level and the IGF-1 (rs5742632) genotypes.
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http://dx.doi.org/10.1089/gtmb.2015.0280 | DOI Listing |
Ophthalmol Sci
December 2023
Erasmus MC, Department of Ophthalmology, Rotterdam, The Netherlands.
Purpose: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of the estimated 70% heritability is missing. Here, we investigate the contribution of rare genetic variation because this might explain more of the missing heritability in the more severe forms of myopia.
View Article and Find Full Text PDFOphthalmologie
June 2023
Zentrum für Augenheilkunde, Medizinische Fakultät und Uniklinik Köln, Universität zu Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
Background: Retinopathy of prematurity (ROP) is one of the most frequent causes of severe visual impairment or blindness in childhood and can lead to severe late complications in children even after the initial disease has resolved.
Purpose: The present study summarizes possible late effects in childhood after treated and untreated ROP. A special focus is on the development of myopia, retinal detachment, as well as neurological and pulmonary development after anti-vascular endothelial growth factor (VEGF) treatment.
Clin Ophthalmol
April 2023
Surgery Department, Instituto Zaldivar, Mendoza, Argentina.
Purpose: To compare best-corrected visual acuity (BCVA) before and after implantable collamer lens (ICL) surgery in patients with low, moderate and high myopia.
Methods: A single-centre, prospective, registry-based study involving patients with myopia who received ICLs between October 2018 and August 2020. The study population was divided into three groups of subjects with low (from 0 to -6 D), moderate (-6 to -10 D) and high myopia (more than -10 D).
Zhonghua Yu Fang Yi Xue Za Zhi
December 2022
Department of Ophthalmology, The Affiliated People's Hospital of Ningbo University, Ningbo 315100,China.
To determine the situation of myopia among primary and junior high school students from 2019 to 2021 in Yinzhou District, Ningbo City, Zhejiang Province. Cross-sectional study. Department of Ophthalmology, The Affiliated People's Hospital of Ningbo University, carried out a cross-sectional study by reviewing the results of five times visual acuity screens among primary and junior high school students from 2019 to 2021 in Yinzhou District, Ningbo City, Zhejiang Province.
View Article and Find Full Text PDFAm J Med Genet A
October 2020
School of Medical Technology, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium.
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