Cheng Tianyu, Wang Jingjing, Xiong Shuyu, Zhang Bo, Li Qiangqiang, Xu Xun, He Xiangui
Department of Preventative Ophthalmology, Shanghai Eye Disease Prevention and Treatment Center, Shanghai Eye Hospital, Shanghai, China.
Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, National Clinical Research Center for Eye Diseases, Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai engineering center for precise diagnosis and treatment of eye diseases, Shanghai, China.
PeerJ. 2020 Jan 27;8:e8436. doi: 10.7717/peerj.8436. eCollection 2020.
To investigate the association between insulin-like growth factor 1 () single-nucleotide polymorphisms (SNPs) and myopia in a young Chinese population.
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 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.
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 ( = 0.0474) and additive ( = 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], = 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 value (Chi square = 5.768, = 0.0163). However, after permutation tests, none of the associations remained statistically significant.
The SNP rs2162679 in was associated with myopia in a young Chinese population. The G allele in the SNP rs2162679 may protect against myopia.
研究胰岛素样生长因子1（IGF-1）单核苷酸多态性（SNP）与中国年轻人群近视之间的关联。
来自一所小学的654名6至13岁中国儿童参与了本研究，并接受了一系列全面的眼部检查，包括散瞳验光和眼轴长度测量。近视定义为较差眼的等效球镜度（SE）≤ -0.5 D。总共使用聚合酶链反应-连接检测反应（PCR-LDR）方法对IGF-1的六个标签SNP进行基因分型。我们测试了这些SNP的四种不同遗传模式（等位基因、显性、隐性和加性模型），并使用多因素逻辑回归计算SNP对近视的影响。此外，我们采用可变大小滑动窗口策略进行单倍型分析。
总体而言，分析纳入了281名近视儿童和373名非近视对照。SNP rs2162679在等位基因（P = 0.0474）和加性（P = 0.0497）模型中两组间均显示出统计学差异。在调整年龄和性别后，SNP rs2162679中基因型为AA的儿童患近视的风险高于基因型为GG 的儿童（OR = 2.219，95% CI [1.218 - 4.039]，P = 0.009）。两组间差异有统计学意义的所有单倍型均包含SNP rs2162679，且四个SNP窗口rs5742653 - rs2162679的P值最低（卡方 = 5.768，P = 0.0163）。然而，经过置换检验后，所有关联均不再具有统计学意义。
IGF-1中的SNP rs2162679与中国年轻人群的近视相关。SNP rs2162679中的G等位基因可能预防近视。
