シガ　ツヨシ   Tsuyoshi Shiga   志賀　剛    所属   医学部 医学科（東京女子医科大学病院）    職種   客員教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.
掲載誌名	正式名：Scientific reports 略　 称：Sci Rep ISSNコード：20452322
掲載区分	国外
出版社	Nature Research
巻・号・頁	8(1),pp.1998
著者・共著者	Tobita Takashige†, Nomura Seitaro, Fujita Takanori, Morita Hiroyuki, Asano Yoshihiro, Onoue Kenji, Ito Masamichi, Imai Yasushi, Suzuki Atsushi, Ko Toshiyuki, Satoh Masahiro, Fujita Kanna, Naito Atsuhiko T, Furutani Yoshiyuki, Toko Haruhiro, Harada Mutsuo, Amiya Eisuke, Hatano Masaru, Takimoto Eiki, Shiga Tsuyoshi, Nakanishi Toshio, Sakata Yasushi, Ono Minoru, Saito Yoshihiko, Takashima Seiji, Hagiwara Nobuhisa, Aburatani Hiroyuki*, Komuro Issei*
発行年月	2018/01
概要	Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically heterogeneous. Cardiac function is improved after treatment in some cardiomyopathy patients, but little is known about genetic predictors of long-term outcomes and myocardial recovery following medical treatment. To elucidate the genetic basis of cardiomyopathy in Japan and the genotypes involved in prognosis and left ventricular reverse remodeling (LVRR), we performed targeted sequencing on 120 DCM (70 sporadic and 50 familial) and 52 HCM (15 sporadic and 37 familial) patients and integrated their genotypes with clinical phenotypes. Among the 120 DCM patients, 20 (16.7%) had TTN truncating variants and 13 (10.8%) had LMNA variants. TTN truncating variants were the major cause of sporadic DCM (21.4% of sporadic cases) as with Caucasians, whereas LMNA variants, which include a novel recurrent LMNA E115M variant, were the most frequent in familial DCM (24.0% of familial cases) unlike Caucasians. Of the 52 HCM patients, MYH7 and MYBPC3 variants were the most common (12 (23.1%) had MYH7 variants and 11 (21.2%) had MYBPC3 variants) as with Caucasians. DCM patients harboring TTN truncating variants had better prognosis than those with LMNA variants. Most patients with TTN truncating variants achieved LVRR, unlike most patients with LMNA variants.
DOI	10.1038/s41598-018-20114-9
PMID	29386531