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Phenotypic and genetic variations between Asian and Caucasian polypoidal choroidal vasculopathy
  1. Janice Marie Jordan-Yu1,2,
  2. Kelvin Teo1,2,
  3. Qiao Fan3,
  4. Jose Carlos Gana2,
  5. Anna Karina Leopando2,
  6. Sandrina Nunes4,5,
  7. Cláudia Farinha4,6,
  8. Patricia Barreto4,5,
  9. Joana Barbosa Melo7,8,
  10. Isabel Carreira7,8,
  11. Joaquim Neto Murta4,5,
  12. Rufino Silva4,5,9,
  13. Chui Ming Gemmy Cheung1,2
  1. 1Singapore Eye Research Institute, Singapore
  2. 2Singapore National Eye Centre, Singapore
  3. 3Centre for Quantitative Medicine, Duke-NUS Medical School, Singapore
  4. 4Association for Innovation and Biomedical Research on Light and Image (AILIBI), Coimbra, Portugal
  5. 5Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  6. 6Ophthalmology Department, Centro Hospitalar E Universitario De Coimbra (CHUC), Coimbra, Portugal
  7. 7Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal
  8. 8Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  9. 9ATLANTIC study group, EVICR.net, Portugal
  1. Correspondence to Chui Ming Gemmy Cheung, Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751, Singapore; gemmy.cheung.c.m{at}snec.com.sg and Rufino Silva, Association for Innovation and Biomedical Research on Light and Image, Azinhaga De Santa Comba, Coimbra 3000-548, Portugal; rufino.silva{at}oftalmologia.co.pt

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.

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Footnotes

  • Correction notice This article has been corrected since it was published online. There was an error in the title and this has now been updated.

  • Funding Funding for this research includes the Investigator-Institution Initiated Research Grant from Bayer: ECR-AMD-2015–2019 (Portugal) and National Medical Research Council grant: NMRC/NIG/1003/2009 and NMRC/OFLGC/004/2018 (Singapore). The funding agencies have no role in the conduct of this study.

  • Competing interests RS reported receiving personal fees as member of the advisory board for Allergan, Alimera Sciences, Bayer, Novartis, Roche, Novo Nordisk and Thea Pharmaceuticals; JNM is a member of the scientific advisory board of Alcon; JF reported being a member of advisory boards for Alimera, Allergan, Bayer, Boehringer and Novartis; SV-P reported receiving personal fees as a consultant for Alimera Sciences, Bayer and Novartis. FC reported receiving personal fees as a consultant for Bayer, Allergan, Novartis, Brill-Alimera, Roche, Alcon and Dorc. AB reported receiving from Bayer consultation fees (advisory board), speaker fees, travel fees (for meetings) and reported receiving from Allergan consultation fees (advisory board), speaker fees, and travel fees (for meetings). The other authors declare that they have no conflict of interest.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available upon reasonable request.

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