A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.

doi:10.1038/s42003-021-01662-9

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A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.

Communications biology - 29 Jan 2021

Nishiguchi Koji M, Miya Fuyuki, Mori Yuka, Fujita Kosuke, Akiyama Masato, Kamatani Takashi, Koyanagi Yoshito, Sato Kota, Takigawa Toru, Ueno Shinji, Tsugita Misato, Kunikata Hiroshi, Cisarova Katarina, Nishino Jo, Murakami Akira, Abe Toshiaki, Momozawa Yukihide, Terasaki Hiroko, Wada Yuko, Sonoda Koh-Hei, Rivolta Carlo, Tsunoda Tatsuhiko, Tsujikawa Motokazu, Ikeda Yasuhiro, Nakazawa Toru

Abstract excerpt

The genetic basis of Japanese autosomal recessive retinitis pigmentosa (ARRP) remains largely unknown. Herein, we applied a 2-step genome-wide association study (GWAS) in 640 Japanese patients. Meta-GWAS identified three independent peaks at P < 5.0 × 10-8, all within the major ARRP gene EYS. Two of the three were each in linkage disequilibrium with a different low frequency variant (allele frequency < 0.05); a...

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PMID: 33514863
DOI: 10.1038/s42003-021-01662-9
PMCID: PMC7846782

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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