Molecular Genetics & Genomic Medicine (Sep 2020)

Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age‐related macular degeneration

  • Rasa Liutkeviciene,
  • Alvita Vilkeviciute,
  • Loresa Kriauciuniene,
  • Mantas Banevicius,
  • Brigita Budiene,
  • Daiva Stanislovaitiene,
  • Reda Zemaitiene,
  • Vytenis P. Deltuva

DOI
https://doi.org/10.1002/mgg3.1357
Journal volume & issue
Vol. 8, no. 9
pp. n/a – n/a

Abstract

Read online

Abstract Background Age‐related macular degeneration (AMD) is the leading cause of blindness in the elderly individuals. The etiology of AMD includes environmental and genetic factors. Methods We aimed to determine the association between CETP (rs5882; rs708272; rs3764261; rs1800775; rs2303790), AGER (rs1800624; rs1800625), and CYP4F2 (rs1558139) gene polymorphisms and development of atrophic AMD. About 52 patients with atrophic AMD and 800 healthy control subjects were evaluated. The genotyping of single‐nucleotide polymorphisms in CETP, AGER, and CYP4F2 was carried out using the real‐time‐PCR method. Results Genetic risk models in the analysis of CETP rs5882 revealed statistically significant variables with increased risk of atrophic AMD in the codominant (p < .001), dominant (p < .001), recessive (p < .001), and additive (p < .001) models with the highest 25.4‐fold increased risk of atrophic AMD in the codominant model (p < .001). The AGER rs1800625 was associated with a highly increased risk of atrophic AMD in the codominant (p < .001), recessive (p < .001), and additive (p < .001) genetic models. Conclusion We identified two polymorphisms with a higher risk of atrophic AMD (CETP rs5882 and AGER rs1800625).

Keywords