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Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians.

Publication ,  Journal Article
Fan, Q; Cheung, CMG; Chen, LJ; Yamashiro, K; Ahn, J; Laude, A; Mathur, R; Mun, CC; Yeo, IY; Lim, TH; Teo, Y-Y; Khor, CC; Park, K-H; Pang, CP ...
Published in: J Hum Genet
December 2017

Polypoidal choroidal vasculopathy (PCV), a subtype of age-related macular degeneration (AMD) more frequently seen in East Asians, has both common and distinct clinical manifestations with typical neovascular AMD (tAMD). We aim to examine the extent to which common genetic variants are shared between these two subtypes. We performed the meta-analysis of association in a total of 1062 PCV patients, 1157 tAMD patients and 5275 controls of East Asian descent from the Genetics of AMD in Asians Consortium at the 34 known AMD loci. A total of eight loci were significantly associated with PCV, including age-related maculopathy susceptibility 2 (ARMS2)-HtrA serine peptidase 1 (HTRA1), complement factor H (CFH), C2-CFB-SKIV2L, CETP, VEGFA, ADAMTS9-AS2 and TGFBR1 (P<5 × 10-4) from the single-nucleotide polymorphism-based test and COL4A3 from the gene-based tests (Pgene=2.02 × 10-4). PCV and tAMD are genetically highly correlated (rg=0.69, P=4.68 × 10-3), with AMD known loci accounting for up to 36% variation. Weaker association for PCV was observed at ARMS2-HTRA1 (Pdif=4.39 × 10-4) and KMT2E-SRPK2(Pdif=4.43 × 10-3), compared with tAMD. Variants at CFH, CETP and VEGFA exhibited different association signals in East Asians, in contrast to those in European individuals. Our data suggest a substantially shared genetic susceptibility for PCV and tAMD, while also highlight the unique associations for PCV, which is useful in understanding the pathogenesis of PCV.

Duke Scholars

Published In

J Hum Genet

DOI

EISSN

1435-232X

Publication Date

December 2017

Volume

62

Issue

12

Start / End Page

1049 / 1055

Location

England

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Macular Degeneration
  • Humans
  • Genetics & Heredity
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Complement Factor H
  • Asian People
  • 3202 Clinical sciences
 

Citation

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Fan, Q., Cheung, C. M. G., Chen, L. J., Yamashiro, K., Ahn, J., Laude, A., … Cheng, C.-Y. (2017). Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians. J Hum Genet, 62(12), 1049–1055. https://doi.org/10.1038/jhg.2017.83
Fan, Qiao, Chui Ming Gemmy Cheung, Li Jia Chen, Kenji Yamashiro, Jeeyun Ahn, Augustinus Laude, Ranjana Mathur, et al. “Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians.J Hum Genet 62, no. 12 (December 2017): 1049–55. https://doi.org/10.1038/jhg.2017.83.
Fan Q, Cheung CMG, Chen LJ, Yamashiro K, Ahn J, Laude A, et al. Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians. J Hum Genet. 2017 Dec;62(12):1049–55.
Fan, Qiao, et al. “Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians.J Hum Genet, vol. 62, no. 12, Dec. 2017, pp. 1049–55. Pubmed, doi:10.1038/jhg.2017.83.
Fan Q, Cheung CMG, Chen LJ, Yamashiro K, Ahn J, Laude A, Mathur R, Mun CC, Yeo IY, Lim TH, Teo Y-Y, Khor CC, Park K-H, Yoshimura N, Pang CP, Wong TY, Cheng C-Y. Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians. J Hum Genet. 2017 Dec;62(12):1049–1055.
Journal cover image

Published In

J Hum Genet

DOI

EISSN

1435-232X

Publication Date

December 2017

Volume

62

Issue

12

Start / End Page

1049 / 1055

Location

England

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Macular Degeneration
  • Humans
  • Genetics & Heredity
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Complement Factor H
  • Asian People
  • 3202 Clinical sciences