Genome-wide association study of neovascular age-related macular degeneration in the Thai population

J Hum Genet. 2017 Nov;62(11):957-962. doi: 10.1038/jhg.2017.72. Epub 2017 Jul 13.

Abstract

We performed a genome-wide association study on 377 cases of neovascular age-related macular degeneration (AMD) and 1074 controls to determine the association of previously reported genetic variants associated with neovascular AMD in the Thai population. All patients were of Thai ancestry. We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10-17), HTRA1 rs11200638 (P=5.47 × 10-17) and complement factor H gene (CFH) rs800292 (P=2.53 × 10-8) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10-8). We also found association of the previously reported CFH rs10737680 (P=1.76 × 10-6) locus in the discovery sample. Two loci not previously reported to be associated with neovascular AMD were selected for replication in 222 cases and 623 controls. The loci included LINCO1317 rs6733379 and rs2384550 on chromosome 12. LINCO1317 rs6733379 (P=3.85 × 10-2) remained significantly associated with neovascular AMD after replication. In conclusion, we confirm that ARMS2, HTRA1 and CFH variants are associated with neovascular AMD in the Thai population. Findings from this study also suggest that variants contributing to the susceptibility of neovascular AMD in the Thai population are mostly similar to other Asians with additional local genetic risks that may specifically be identified in Thai population.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Asian People / genetics
  • Chromosomes, Human, Pair 12 / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genotype
  • High-Temperature Requirement A Serine Peptidase 1 / genetics
  • Humans
  • Macular Degeneration / epidemiology
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Neovascularization, Pathologic / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Principal Component Analysis
  • Proteins / genetics
  • Thailand / epidemiology

Substances

  • ARMS2 protein, human
  • Proteins
  • High-Temperature Requirement A Serine Peptidase 1
  • HTRA1 protein, human