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Related Concept Videos

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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.
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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.
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Related Experiment Video

Updated: Apr 8, 2026

Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model
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Association between COL1A1 polymorphisms and high myopia: a meta-analysis.

Xiaoyu Zhang1, Xingtao Zhou1, Xinhua Qu2

  • 1Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of The Health Ministry Shanghai, China.

International Journal of Clinical and Experimental Medicine
|July 2, 2015
PubMed
Summary

This meta-analysis found that the COL1A1 rs2075555 polymorphism may be associated with a reduced risk of high myopia. Further research is needed to confirm this finding for collagen type I alpha 1 gene variants and vision.

Keywords:
COL1A1high myopiameta-analysispolymorphisms

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Conflicting results exist regarding the association between COL1A1 gene polymorphisms and high myopia risk.
  • Previous studies have not definitively established a link between specific COL1A1 single-nucleotide polymorphisms (SNPs) and high myopia susceptibility.

Purpose of the Study:

  • To conduct a meta-analysis to clarify the relationship between COL1A1 polymorphisms and the risk of developing high myopia.
  • To consolidate evidence from existing studies to provide a more robust estimate of the association.

Main Methods:

  • Systematic literature search of MEDLINE, EMBASE, and OVID for relevant case-control and cohort studies.
  • Meta-analysis of data from five studies on rs2075555 and three studies on rs2269336.
  • Calculation of odds ratios (OR) with 95% confidence intervals (CI) and assessment of heterogeneity and publication bias.

Main Results:

  • The rs2075555 polymorphism showed a significant association with reduced high myopia risk in dominant (OR=0.86) and homozygote (OR=0.79) models.
  • The rs2269336 polymorphism was associated with increased risk in the recessive model (OR=1.26) and reduced risk in the heterozygote model (OR=0.81).
  • No significant publication bias was detected for rs2075555.

Conclusions:

  • The COL1A1 rs2075555 polymorphism is suggested as a potential low-risk factor for high myopia.
  • Further investigation into COL1A1 gene variants and their role in high myopia pathogenesis is warranted.