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

Paisan Ruamviboonsuk, Mongkol Tadarati, Panisa Singhanetr, Sukanya Wattanapokayakit, Punna Kunhapan, Thanyapat Wanitchanon, Nuanjun Wichukchinda, Taisei Mushiroda, Masato Akiyama, Yukihide Momozawa, Michiaki Kubo, Surakameth Mahasirimongkol

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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.

Original languageEnglish
Pages (from-to)957-962
Number of pages6
JournalJournal of Human Genetics
Volume62
Issue number11
DOIs
Publication statusPublished - 01-11-2017

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Ruamviboonsuk, P., Tadarati, M., Singhanetr, P., Wattanapokayakit, S., Kunhapan, P., Wanitchanon, T., Wichukchinda, N., Mushiroda, T., Akiyama, M., Momozawa, Y., Kubo, M., & Mahasirimongkol, S. (2017). Genome-wide association study of neovascular age-related macular degeneration in the Thai population. Journal of Human Genetics, 62(11), 957-962. https://doi.org/10.1038/jhg.2017.72