Related Experiment Video
Updated: Jun 20, 2026
05:56
Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model
Published on: April 3, 2016
Sclera-related gene polymorphisms in high myopia.
Hui-Ju Lin1, Lei Wan, Yuhsin Tsai
1Department of Ophthalmology, China Medical University Hospital, Taichung 404, Taiwan.
Molecular Vision
|August 28, 2009
Summary
Polymorphisms in transforming growth factor-beta2 (TGF-beta2) may protect against high myopia. The TGF-beta2 rs7550232 A allele and A/A genotype were associated with a reduced risk of developing high myopia.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Extracellular matrix components like transforming growth factor-beta2 (TGF-beta2), basic fibroblast growth factor (bFGF), and fibromodulin (FMOD) are crucial for scleral structure.
- These molecules have been implicated in the pathogenesis of high myopia.
Purpose of the Study:
- To investigate the association between myopia and specific genetic polymorphisms in TGF-beta2, bFGF, and FMOD.
- To identify genetic variants contributing to the development of high myopia.
Main Methods:
- Case-control study involving high myopia patients (n=195) and controls (n=94).
- Genotyping of single nucleotide polymorphisms (SNPs) in TGF-beta2 (rs7550232, rs991967), bFGF (rs308395, rs41348645), and FMOD (rs7543418) using HRM and RFLP.
- Stepwise logistic regression analysis to determine the contribution of significant SNPs to myopia development.
Main Results:
- Significant differences in allele and genotype frequencies (A allele and A/A genotype) of TGF-beta2 (rs7550232) were observed between high myopia and control groups (p=0.0178 and p=0.03).
- Haplotype distribution for TGF-beta2 (Ht2; A/A) also showed significant differences (p=0.014).
- TGF-beta2 (rs7550232) was identified as a significant contributor to high myopia development.
Conclusions:
- Transforming growth factor-beta2 (TGF-beta2) plays a role in scleral structure and may influence myopia development.
- Specific polymorphisms in TGF-beta2 (rs7550232), namely the A allele and A/A genotype, appear to confer a protective effect against high myopia.
Related Concept Videos
01:11Genetic Lingo
Overview
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...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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...
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...