Genetics
In 1,264 Lithuanians, two CETP variants raise exudative AMD risk up to 1.7-fold while a third, rs3764261, cuts it by 1.8-fold (Gene 2017)
Original title: Associations of cholesteryl ester transfer protein (CETP) gene variants with predisposition to age-related macular degeneration
A study genotyped five CETP SNPs (rs5882, rs708272, rs3764261, rs1800775, rs2303790) by RT-PCR in 1,264 Lithuanian subjects: 251 with early age-related macular degeneration (AMD), 206 with exudative AMD, and 807 healthy controls. Each copy of the rs5882 A allele carried a 1.3-fold increased risk of exudative AMD (p=0.046). The rs708272 G/A and A/A genotypes carried 1.5-fold and 1.7-fold increased risks under co-dominant and dominant models (p=0.049 and p=0.021), and each additional rs708272 A allele carried a 1.3-fold increased risk. In contrast, rs3764261 was protective: the C/A genotype and the combined C/A plus A/A genotypes were associated with 1.8-fold and 1.5-fold decreased risks of exudative AMD (p=0.001 and p=0.015). The authors conclude rs5882 and rs708272 are AMD risk polymorphisms in CETP, while rs3764261 is protective, adding specific variant-level detail to the ongoing question of CETP genetics and macular degeneration risk.
Original abstract
Purpose: To determine the frequency of the genotypes of single nucleotide polymorphisms (SNPs) in the gene encoding cholesteryl ester transfer protein (CETP) and their associations with age-related macular degeneration (AMD) in the Lithuanian population.
Study Design: A total of 1264 subjects were examined: 251 patients with early AMD, 206 patients with exudative AMD, and 807 healthy controls.
Methods: The genotyping of CETP (rs5882, rs708272, rs3764261, rs1800775, rs2303790) was carried out using the RT-PCR.
Results: Binomial logistic regression analysis revealed that each copy of rs5882 allele A was associated with a 1.3-fold increased risk of exudative AMD (p=0.046). The G/A and A/A genotypes of the rs708272 polymorphism were associated with 1.5-fold and 1.7-fold increased risks of exudative AMD (p=0.049 and p=0.021, respectively). Combination of two genotypes (G/A+A/A) under the dominant model were associated with a 1.5-fold increased risk of exudative AMD (p=0.021). Analysis of rs708272 revealed that the G/A and A/A genotypes under the co-dominant model were associated with 1.5-fold and 1.7-fold increased risks of exudative AMD, respectively (OR=1.450, 95% CI=1.002-2.098; p=0.049 and OR=1.710, 95% CI=1.064-2.156; p=0.021, respectively). Both genotypes (G/A+A/A) under the dominant model were associated with the 1.5-fold increased risk of exudative AMD, as well (OR=1.514, 95% CI=1.064-2.156; p=0.021) and each additional copy A allele was associated with a 1.3-fold increased risk of exudative AMD (OR=1.316, 95% CI=1.051-1.646; p=0.016). The rs3764261 polymorphism was identified to be protective: the C/A genotype and the combination of two genotypes (C/A+A/A) were associated with 1.8-fold and 1.5-fold decreased risks of exudative AMD (p=0.001 and p=0.015, respectively).
Conclusion: Our study identified two polymorphisms with a higher risk of AMD development (rs5882 and rs708272) and a protective polymorphism for AMD (rs3764261).
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.