Genetics
CETP variant rs3764261 is linked to polypoidal choroidal vasculopathy in a Portuguese population, but not in a Singaporean cohort (Br J Ophthalmol 2021)
Original title: T and genetic variations between Asian and Caucasian polypoidal choroidal vasculopathy
This study compared phenotypic and genetic variations in polypoidal choroidal vasculopathy (PCV) between 35 Portuguese and 105 Singaporean treatment-naive patients, analyzing single nucleotide polymorphisms across eight PCV-associated loci. The Portuguese cohort showed higher prevalence of soft drusen, lower prevalence of subretinal hemorrhage, smaller polypoidal lesion area, and lower central retinal thickness compared to the Singaporean cohort. CETP rs3764261 was significantly associated with PCV in the Portuguese population (OR 2.467, 95% CI 1.282-4.745, p=0.006), while CFH rs800292 was significantly associated with PCV in the Singaporean population (OR 1.719, 95% CI 1.139-2.596, p=0.010). The authors conclude that different genetic polymorphisms are associated with PCV in these two populations, alongside significant phenotypic differences.
Original abstract
Purpose: To compare phenotypic and genetic variations in polypoidal choroidal vasculopathy (PCV) between Caucasian and Asian patients.
Methods: We analysed phenotypic and genotypic data from two sites, Association for Innovation and Biomedical Research on Light and Image, Portugal and Singapore National Eye Centre, Singapore. Baseline fundus photography, spectral domain-optical coherence tomography, indocyanine green and fluorescein angiography scans were analysed by respective reading centres using a standardised grading protocol. Single nucleotide polymorphisms across 8 PCV loci were compared between cases and controls selected from each population.
Results: One hundred and forty treatment-naïve PCV participants (35 Portuguese and 105 Singaporean) were included. The Portuguese cohort were older (72.33±8.44 vs 68.71±9.40 years, p=0.043) and were comprised of a lower proportion of males (43% vs 71%, p=0.005) compared with the Singaporean cohort. Differences in imaging features include higher prevalence of soft drusen (66% vs 30%, p=0.004), lower prevalence of subretinal haemorrhage (14% vs 67%, p<0.001), smaller polypoidal lesion (PL) area (0.09±0.09 vs 0.76±0.93 mm2, p<0.001), lower ratio of PL to branching vascular network area (3% vs 38%, p<0.001) and lower central retinal thickness (346.48±93.74 vs 493.16±212.92 µm, p<0.001) in the Portuguese cohort. CETP rs3764261 (OR 2.467; 95% CI 1.282 to 4.745, p=0.006) in the Portuguese population was significantly associated with PCV and CFH rs800292 (OR 1.719; 95% CI 1.139 to 2.596, p=0.010) in the Singaporean population, respectively.
Conclusion: Among Asian and Caucasian patients with PCV, there are significant differences in the expression of phenotype. We also identified different polymorphisms associated with PCV in the two populations.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.