Related Experiment Video
Updated: Jun 27, 2026
09:37
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Association Between Polymorphisms of 4 Common Genes and High Myopia Risk: A Comprehensive Analysis
Qianqian Yu1, Chao Sun1, Tianhua Xie1
1Department of Ophthalmology, Wuxi People's Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu, China.
Summary
This study found specific gene variations, including GJD2 rs3743123 and four ZC3H11B SNPs, are linked to a reduced risk of high myopia (HM). Further research is needed to confirm these findings for early HM identification.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Genome-wide association studies (GWAS) suggest single-nucleotide polymorphisms (SNPs) influence high myopia (HM) susceptibility.
- Investigating the association between common SNPs in four genes (GJD2, ZC3H11B, MMP1, MMP9) and HM risk is crucial.
Purpose of the Study:
- To conduct a meta-analysis of existing studies on the association between specific SNPs in GJD2, ZC3H11B, MMP1, and MMP9 genes and the risk of high myopia.
- To identify genetic markers that may contribute to the development or protection against high myopia.
Main Methods:
- A systematic literature search was performed on PubMed and Wanfang databases until December 10, 2025.
- Keywords included gene names (GJD2, ZC3H11B, MMP1, MMP9), 'polymorphism', and 'myopia' or 'shortsightedness'.
- Meta-analysis of data from 15 articles was conducted using Stata software to calculate odds ratios and 95% confidence intervals.
Main Results:
- The meta-analysis included 2 SNPs in GJD2, 4 SNPs in ZC3H11B, 1 SNP in MMP1, and 1 SNP in MMP9.
- The GJD2 gene SNP rs3743123 was significantly associated with a decreased overall risk of high myopia.
- All four analyzed SNPs in the ZC3H11B gene (rs4373767, rs4428898, rs10779363, rs7544369) showed a similar trend associated with reduced HM risk.
Conclusions:
- Polymorphisms in the GJD2 gene (rs3743123) and ZC3H11B gene (rs4373767, rs4428898, rs10779363, rs7544369) are associated with the risk of high myopia.
- These findings require confirmation through larger studies and mechanistic research.
- Identifying these genetic associations may aid in the early detection and prognostic assessment of high myopia.
Related Concept Videos
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:11Genetic Lingo
Overview
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...