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New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Publication ,  Journal Article
Cheng, C-Y; Yamashiro, K; Chen, LJ; Ahn, J; Huang, L; Huang, L; Cheung, CMG; Miyake, M; Cackett, PD; Yeo, IY; Laude, A; Mathur, R; Pang, J ...
Published in: Nat Commun
January 28, 2015

Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10(-22)). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l(-1) (P=5.82 × 10(-21)) in East Asians (n=7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala (OR=0.78, P=6.19 × 10(-18)), SLC44A4 Asp47Val (OR=1.27, P=1.08 × 10(-11)) and FGD6 Gln257Arg (OR=0.87, P=2.85 × 10(-8)). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature.

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Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

January 28, 2015

Volume

6

Start / End Page

6063

Location

England

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • Polymorphism, Single Nucleotide
  • Mutation
  • Macular Degeneration
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Exome
 

Citation

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Cheng, C.-Y., Yamashiro, K., Chen, L. J., Ahn, J., Huang, L., Cheung, C. M. G., … Khor, C. C. (2015). New loci and coding variants confer risk for age-related macular degeneration in East Asians. Nat Commun, 6, 6063. https://doi.org/10.1038/ncomms7063
Cheng, Ching-Yu, Kenji Yamashiro, Li Jia Chen, Jeeyun Ahn, Lulin Huang, Lvzhen Huang, Chui Ming G. Cheung, et al. “New loci and coding variants confer risk for age-related macular degeneration in East Asians.Nat Commun 6 (January 28, 2015): 6063. https://doi.org/10.1038/ncomms7063.
Cheng C-Y, Yamashiro K, Chen LJ, Ahn J, Huang L, Cheung CMG, et al. New loci and coding variants confer risk for age-related macular degeneration in East Asians. Nat Commun. 2015 Jan 28;6:6063.
Cheng, Ching-Yu, et al. “New loci and coding variants confer risk for age-related macular degeneration in East Asians.Nat Commun, vol. 6, Jan. 2015, p. 6063. Pubmed, doi:10.1038/ncomms7063.
Cheng C-Y, Yamashiro K, Chen LJ, Ahn J, Huang L, Cheung CMG, Miyake M, Cackett PD, Yeo IY, Laude A, Mathur R, Pang J, Sim KS, Koh AH, Chen P, Lee SY, Wong D, Chan CM, Loh BK, Sun Y, Davila S, Nakata I, Nakanishi H, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, Matsuda F, Mori K, Yoneya S, Sakurada Y, Iijima H, Iida T, Honda S, Lai TYY, Tam POS, Chen H, Tang S, Ding X, Wen F, Lu F, Zhang X, Shi Y, Zhao P, Zhao B, Sang J, Gong B, Dorajoo R, Yuan J-M, Koh W-P, van Dam RM, Friedlander Y, Lin Y, Hibberd ML, Foo JN, Wang N, Wong CH, Tan GS, Park SJ, Bhargava M, Gopal L, Naing T, Liao J, Ong PG, Mitchell P, Zhou P, Xie X, Liang J, Mei J, Jin X, Saw S-M, Ozaki M, Mizoguchi T, Kurimoto Y, Woo SJ, Chung H, Yu H-G, Shin JY, Park DH, Kim IT, Chang W, Sagong M, Lee S-J, Kim HW, Lee JE, Li Y, Liu J, Teo YY, Heng CK, Lim TH, Yang S-K, Song K, Vithana EN, Aung T, Bei JX, Zeng YX, Tai ES, Li XX, Yang Z, Park K-H, Pang CP, Yoshimura N, Wong TY, Khor CC. New loci and coding variants confer risk for age-related macular degeneration in East Asians. Nat Commun. 2015 Jan 28;6:6063.

Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

January 28, 2015

Volume

6

Start / End Page

6063

Location

England

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • Polymorphism, Single Nucleotide
  • Mutation
  • Macular Degeneration
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Exome