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Associations between CYP2J2 (-76G>T) rs890293 polymorphism and age-related macular degeneration

Rasa Liutkeviciene1,2, Alvita Vilkeviciute1, Roman Botov3

  • 1Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu 2, Kaunas, Lithuania, LT-50009.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
|May 28, 2019
PubMed

Insights

The CYP2J2 (-76G>T) TT genotype appears less frequent in early age-related macular degeneration (AMD), suggesting a potential protective role. Further research with larger sample sizes is needed to confirm this finding in AMD genetics.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) causes irreversible central vision loss.
  • AMD pathogenesis is multifactorial, involving genetic and environmental factors.
  • Lipids are a significant component of drusen, making lipid metabolism genes like CYP2J2 potential targets for AMD research.

Purpose of the Study:

  • To investigate the association between the CYP2J2 (-76G>T) rs890293 polymorphism and early or exudative AMD.
  • To analyze this genetic association within a Lithuanian population.

Main Methods:

  • Genotyping of 204 early AMD patients, 197 exudative AMD patients, and 198 healthy controls.
  • DNA purification from peripheral white blood cells using commercial kits.
  • Real-time PCR method for genotyping the CYP2J2 rs890293 polymorphism.

Main Results:

  • The TT genotype of CYP2J2 (-76G>T) rs890293 was significantly less frequent in early AMD patients (0%) compared to controls (2.5%, P=0.028).
  • No significant differences in rs890293 polymorphisms were found between exudative AMD patients and controls.
  • The TT genotype was also less frequent in early AMD patients aged 65 and older compared to controls of the same age group (0% vs. 5.4%, P=0.03).

Conclusions:

  • The CYP2J2 (-76G>T) TT genotype may be linked to a reduced risk or manifestation of early-stage AMD.
  • Larger-scale studies are necessary to validate these preliminary findings and fully understand the role of this genotype in AMD.
Keywords:
age-related macular degenerationgene polymorphismsrs890293

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