Journal article

A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration

Kyoko Kawashima-Kumagai, Kenji Yamashiro, Munemitsu Yoshikawa, Masahiro Miyake, Gemmy Cheung Chui Ming, Qiao Fan, Jia Yu Koh, Masaaki Saito, Masako Sugahara-Kuroda, Maho Oishi, Yumiko Akagi-Kurashige, Isao Nakata, Hideo Nakanishi, Norimoto Gotoh, Akio Oishi, Hiroshi Tamura, Sotaro Ooto, Akitaka Tsujikawa, Yasuo Kurimoto, Tetsuju Sekiryu Show all

Scientific Reports | NATURE PUBLISHING GROUP | Published : 2017


Bilateral neovascular age-related macular degeneration (AMD) causes much more handicaps for patients than unilateral neovascular AMD. Although several AMD-susceptibility genes have been evaluated for their associations to bilaterality, genome-wide association study (GWAS) on bilaterality has been rarely reported. In the present study, we performed GWAS using neovascular AMD cases in East Asian. The discovery stage compared 581,252 single nucleotide polymorphisms (SNPs) between 803 unilateral and 321 bilateral Japanese cases but no SNP showed genome-wide significance, while SNPs at six regions showed P-value < 1.0 × 10-5, STON1-GTF2A1L/LHCGR/FSHR, PLXNA1, CTNNA3, ARMS2/HTRA1, LHFP, and FLJ387..

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Awarded by Japan Society for the Promotion of Science, Tokyo, Japan

Awarded by National Medical Research Council in Singapore, Singapore

Awarded by Grants-in-Aid for Scientific Research

Funding Acknowledgements

Supported in part by grants-in-aid for scientific research (No. 24592624) from the Japan Society for the Promotion of Science, Tokyo, Japan, and the Japan National Society for the Prevention of Blindness, Tokyo, Japan. This research was also supported by the National Medical Research Council in Singapore (CSA/033/2012), Singapore.