CETP variant rs5882 carries a 25-fold higher risk of atrophic age-related macular degeneration in a Lithuanian case-control study (Mol Genet Genomic Med 2020)

Original title: Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age-related macular degeneration

Mol Genet Genomic Med · 14 July 2020 · 6

Liutkeviciene R, Vilkeviciute A, Kriauciuniene L, Banevicius M, Budiene B, Stanislovaitiene D, Zemaitiene R, Deltuva VP

A case-control study genotyped five CETP variants (rs5882, rs708272, rs3764261, rs1800775, rs2303790), two AGER variants and one CYP4F2 variant by real-time PCR in 52 patients with atrophic age-related macular degeneration (AMD) and 800 healthy controls. CETP rs5882 was significantly associated with atrophic AMD across codominant, dominant, recessive and additive genetic models, with the codominant model showing a 25.4-fold increased risk. AGER rs1800625 also carried a highly increased risk across codominant, recessive and additive models. The authors conclude CETP rs5882 and AGER rs1800625 are risk polymorphisms for atrophic AMD, a small but strikingly strong genetic signal directly relevant to the debate over CETP inhibition and macular degeneration risk.

Original 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).

Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.