Clinical characteristics and outcomes of heart failure patients with long-term care insurance ― Insights from the kitakawachi clinical background and outcome of heart failure registry

Kensuke Takabayashi, Kotaro Iwatsu, Tsutomu Ikeda, Yuko Morikami, Tahei Ichinohe, Takashi Yamamoto, Kotoe Takenaka, Hiroyuki Takenaka, Hiroyuki Muranaka, Ryoko Fujita, Miyuki Okuda, Osamu Nakajima, Hitoshi Koito, Yuka Terasaki, Tetsuhisa Kitamura, Shouji Kitaguchi, Ryuji Nohara, Clinical Characteristics and Outcomes of Heart Failure Patients With Long-Term Care Insurance　― Insights From the Kitakawachi Clinical Background and Outcome of Heart Failure Registry ―, Circulation Journal, 2020, Volume 84, Issue 9, Pages 1528-1535, Released August 25, 2020, [Advance publication] Released July 21, 2020, Online ISSN 1347-4820, Print ISSN 1346-9843, https://doi.org/10.1253/circj.CJ-20-0017, https://www.jstage.jst.go.jp/article/circj/84/9/84_CJ-20-0017/_article/-char/e

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

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 A failed to restore rhodopsin mislocalization induced by morpholino-mediated knockdown of eys in zebrafish, consistent with the variant being pathogenic. c.2528 G > A solved an additional 7.0% of Japanese ARRP cases. The third peak was in linkage disequilibrium with a common non-synonymous variant (c.7666 A > T, p.S2556C), possibly representing an unreported disease-susceptibility signal. GWAS successfully unraveled genetic causes of a rare monogenic disorder and identified a high frequency variant potentially linked to development of local genome therapeutics