Association of IGF1 single-nucleotide polymorphisms with myopia in Chinese children

Abstract

Purpose To investigate the association between insulin-like growth factor 1 (IGF1) single-nucleotide polymorphisms (SNPs) and myopia in a young Chinese population. Methods A total of 654 Chinese children aged 6–13 years from one primary school participated in our study and underwent a series of comprehensive ocular examinations, including cycloplegic refraction and measurements of axial length. Myopia was defined as a spherical equivalence (SE) ≤ −0.5 D in the worse eye. In total, six tagging SNPs of IGF1 were genotyped using the PCR-LDR (Polymerase Chain Reaction-Ligation Detection Reaction) method. We tested four different genetic modes (the allele, dominant, recessive, and additive models) of these SNPs and used multivariate logistic regression to calculate the effect of SNPs on myopia. In addition, we conducted a haplotype analysis with a variable-sized slide-window strategy. Results Overall, 281 myopic children and 373 non-myopic controls were included in the analysis. The SNP rs2162679 showed a statistical difference between the two groups in both the allele (p = 0.0474) and additive (p = 0.0497) models. After adjusting for age and gender, children with the genotype AA in the SNP rs2162679 had a higher risk of myopia than those with the genotype GG (OR = 2.219, 95% CI [1.218–4.039], p = 0.009). All haplotypes that varied significantly between the two groups contained the SNP rs2162679, and the four-SNP window rs5742653–rs2162679 had the lowest p value (Chi square = 5.768, p = 0.0163). However, after permutation tests, none of the associations remained statistically significant. Conclusion The SNP rs2162679 in IGF1 was associated with myopia in a young Chinese population. The G allele in the SNP rs2162679 may protect against myopia.

The G allele of the IGF1 rs2162679 SNP is a potential protective factor for any myopia: Updated systematic review and meta-analysis

“…In 2010, Metlapally et al [ 43 ] and Zidan et al [ 33 ] found that rs6214 was positively associated with any myopia/high-grade myopia after correcting for multiple testing. However, in other studies, no significant association for rs6214 was found using single marker analysis [ 27 – 32 , 34 , 35 ]. Zhuang et al [ 31 ] and Zhao et al [ 35 ] reported that rs12423791 was significantly associated with high myopia in a Chinese population.…”

“…Among these SNPs, seven were tested in at least three studies and then were included in the meta-analysis. The study subjects were Chinese [ 29 , 31 , 32 , 34 , 35 ], Japanese [ 27 , 28 ], Egyptian [ 33 ] and Polish [ 30 ] with sample sizes that ranged from 127 to 1339. The total sample size was 9546 (4596 individuals with any myopia and 4950 controls).…”

“…Rs12423791 was tested in six studies [ 27 – 29 , 31 , 32 , 35 ] with 2971 cases and 3150 controls. Random-effects models were used to calculate the pooled ORs.…”

Digital Therapeutics: Exploring the Possibilities of Digital Intervention for Myopia

“…Genetic association studies showed that single nucleotide polymorphism observed in IGF-1 was significantly associated with different types of myopia, including high myopia in Caucasian and Chinese populations ( 43 , 44 ).…”

Intraocular epidermal growth factor concentration, axial length, and high axial myopia

“…Experimental studies on chicken and guinea pigs revealed that various molecules if applied intraocularly or topically had an effect on an externally induced elongation of the optical axis. The list of these molecules includes dopamine and its agonists and antagonists, atropine, transforming growth factor beta (TGF-ß), fibroblast growth factor, hepatocyte growth factor, insulin-like growth factor, and amphiregulin, and other epidermal growth factor (EGF) family members [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32]. To further elucidate the potential association of EGF and its family members with the process of myopic axial elongation in humans, we undertook this study to examine the intraocular concentration of EGF in the aqueous humor of non-highly patients and patients with high myopia.…”