{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:03:34Z","timestamp":1791295414673,"version":"4.1.0"},"reference-count":54,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2017,4,17]],"date-time":"2017-04-17T00:00:00Z","timestamp":1492387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0175649","type":"journal-article","created":{"date-parts":[[2017,4,17]],"date-time":"2017-04-17T13:34:15Z","timestamp":1492436055000},"page":"e0175649","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":75,"title":["Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease"],"prefix":"10.1371","volume":"12","author":[{"given":"Takaaki","family":"Morimoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohei","family":"Mineharu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koh","family":"Ono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Nakatochi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahoko","family":"Ichihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risako","family":"Kabata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanying","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hatasu","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kouji H.","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsunobu","family":"Takenaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Funaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Yokota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuaki","family":"Matsubara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Izawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Kimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susumu","family":"Miyamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akio","family":"Koizumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,4,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.jacc.2008.02.075","article-title":"Trends in the incidence of coronary heart disease and stroke and their risk factors in Japan, 1964 to 2003: the Akita-Osaka study","volume":"52","author":"A Kitamura","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"e000573","DOI":"10.1136\/bmjopen-2011-000573","article-title":"Trends in sudden cardiac death and its risk factors in Japan from 1981 to 2005: the Circulatory Risk in Communities Study (CIRCS)","volume":"2","author":"M Maruyama","year":"2012","journal-title":"BMJ Open"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1093\/ije\/29.5.837","article-title":"Comparison of fatal coronary heart disease occurrence based on population surveys in Japan and the USA","volume":"29","author":"I Saito","year":"2000","journal-title":"Int J Epidemiol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1161\/01.CIR.89.1.109","article-title":"Heart disease deaths in a Japanese urban area evaluated by clinical and police records","volume":"89","author":"S Baba","year":"1994","journal-title":"Circulation"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1001\/jama.1995.03530020049031","article-title":"Serum total cholesterol and long-term coronary heart disease mortality in different cultures. Twenty-five-year follow-up of the seven countries study","volume":"274","author":"WM Verschuren","year":"1995","journal-title":"JAMA"},{"key":"ref6","unstructured":"Health Labour and Welfare Statistic Association. [Kokumin Eisei no Doukou]. J Heal Welf Stat. 2014;"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1016\/S0140-6736(08)61366-5","article-title":"Emergence of chronic non-communicable diseases in China","volume":"372","author":"G Yang","year":"2008","journal-title":"Lancet (London, England)"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"637","DOI":"10.3346\/jkms.2011.26.5.637","article-title":"Time trend and age-period-cohort effects on acute myocardial infarction mortality in Korean adults from 1988 to 2007","volume":"26","author":"H-J Jhun","year":"2011","journal-title":"J Korean Med Sci"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1016\/j.jacc.2012.03.074","article-title":"Cardiovascular disease in the developing world: prevalences, patterns, and the potential of early disease detection","volume":"60","author":"DS Celermajer","year":"2012","journal-title":"J Am Coll Cardiol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1111\/j.1547-5069.2005.00055.x","article-title":"Genomics and cardiovascular disease","volume":"37","author":"L Frazier","year":"2005","journal-title":"J Nurs Scholarsh"},{"key":"ref11","first-page":"1715","article-title":"Molecular genetics of coronary artery disease","volume":"60","author":"K Ozaki","year":"2015","journal-title":"J Hum Genet"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1001\/archneur.1969.00480090076012","article-title":"Cerebrovascular \u201cmoyamoya\u201d disease. Disease showing abnormal net-like vessels in base of brain","volume":"20","author":"J Suzuki","year":"1969","journal-title":"Arch Neurol"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1007\/s12199-015-0498-7","article-title":"A new horizon of moyamoya disease and associated health risks explored through RNF213","volume":"21","author":"A Koizumi","year":"2016","journal-title":"Environ Health Prev Med"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"470","DOI":"10.3346\/jkms.2015.30.4.470","article-title":"Coronary Heart Disease in Moyamoya Disease: Are They Concomitant or Coincidence?","volume":"30","author":"TM Nam","year":"2015","journal-title":"J Korean Med Sci"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.ajhg.2009.04.007","article-title":"Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease","volume":"84","author":"DC Guo","year":"2009","journal-title":"Am J Hum Genet"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1038\/jhg.2010.132","article-title":"A genome-wide association study identifies RNF213 as the first Moyamoya disease gene","volume":"56","author":"F Kamada","year":"2011","journal-title":"J Hum Genet"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"e22542","DOI":"10.1371\/journal.pone.0022542","article-title":"Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development","volume":"6","author":"W Liu","year":"2011","journal-title":"PLoS One"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"299","DOI":"10.2176\/nmc.52.299","article-title":"Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations","volume":"52","author":"W Liu","year":"2012","journal-title":"Neurol Med Chir (Tokyo)"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"2894","DOI":"10.1161\/STROKEAHA.113.002477","article-title":"Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis\/occlusion","volume":"44","author":"S Miyawaki","year":"2013","journal-title":"Stroke"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1186\/s12881-015-0252-4","article-title":"Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals","volume":"16","author":"M-A Jang","year":"2015","journal-title":"BMC Med Genet"},{"key":"ref21","article-title":"Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population","volume":"21","author":"Y Cao","year":"2016","journal-title":"Environ Health Prev Med"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1161\/CIRCGENETICS.111.000027","article-title":"Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis","volume":"6","author":"S Ichihara","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1093\/hmg\/ddt488","article-title":"A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2","volume":"23","author":"Y Wu","year":"2014","journal-title":"Hum Mol Genet"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"1916","DOI":"10.1056\/NEJMoa021445","article-title":"Prediction of the risk of myocardial infarction from polymorphisms in candidate genes","volume":"347","author":"Y Yamada","year":"2002","journal-title":"N Engl J Med"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1007\/s00125-009-1517-2","article-title":"Plasma resistin concentration determined by common variants in the resistin gene and associated with metabolic traits in an aged Japanese population","volume":"53","author":"H Asano","year":"2010","journal-title":"Diabetologia"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"e61","DOI":"10.1016\/j.diabres.2011.02.029","article-title":"The ratio of adiponectin to homeostasis model assessment of insulin resistance is a powerful index of each component of metabolic syndrome in an aged Japanese population: results from the KING Study","volume":"92","author":"M Nakatochi","year":"2011","journal-title":"Diabetes Res Clin Pract"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1038\/ejhg.2010.201","article-title":"Relation of a common variant of the adiponectin gene to serum adiponectin concentration and metabolic traits in an aged Japanese population","volume":"19","author":"D Tanimura","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1038\/ng.3405","article-title":"Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation","volume":"47","author":"N Kato","year":"2015","journal-title":"Nat Genet"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"e0135713","DOI":"10.1371\/journal.pone.0135713","article-title":"Body Mass Index, High-Sensitivity C-Reactive Protein and Mortality in Chinese with Coronary Artery Disease","volume":"10","author":"D Ding","year":"2015","journal-title":"PLoS One"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1038\/hr.2009.34","article-title":"The Japanese Society of Hypertension Guidelines for the Management of Hypertension (JSH 2009)","volume":"32","author":"T Ogihara","year":"2009","journal-title":"Hypertens Res"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"155","DOI":"10.5551\/jat.E537","article-title":"Diagnostic criteria for dyslipidemia. Executive summary of Japan Atherosclerosis Society (JAS) guideline for diagnosis and prevention of atherosclerotic cardiovascular diseases for Japanese","volume":"14","author":"T Teramoto","year":"2007","journal-title":"J Atheroscler Thromb"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1111\/j.2040-1124.2010.00074.x","article-title":"Report of the committee on the classification and diagnostic criteria of diabetes mellitus","volume":"1","author":"Y Seino","year":"2010","journal-title":"J Diabetes Investig"},{"key":"ref33","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/nmeth.2307","article-title":"Improved whole-chromosome phasing for disease and population genetic studies","volume":"10","author":"O Delaneau","year":"2013","journal-title":"Nat Methods"},{"key":"ref34","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1136\/jnnp.2006.096040","article-title":"Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting","volume":"77","author":"Y Mineharu","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref35","doi-asserted-by":"publisher","first-page":"2357","DOI":"10.1212\/01.wnl.0000291012.49986.f9","article-title":"Autosomal dominant moyamoya disease maps to chromosome 17q25.3","volume":"70","author":"Y Mineharu","year":"2008","journal-title":"Neurology"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1007\/s12199-012-0299-1","article-title":"P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure","volume":"18","author":"A Koizumi","year":"2013","journal-title":"Environ Health Prev Med"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1212\/WNL.0b013e318249f71f","article-title":"Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease","volume":"78","author":"S Miyatake","year":"2012","journal-title":"Neurology"},{"key":"ref38","article-title":"Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population","volume":"7","author":"Z Wu","year":"2012","journal-title":"PLoS One"},{"key":"ref39","doi-asserted-by":"publisher","first-page":"3200","DOI":"10.1161\/STROKEAHA.114.006244","article-title":"RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease","volume":"45","author":"AC Cecchi","year":"2014","journal-title":"Stroke"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1038\/nature13917","article-title":"Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction","volume":"518","author":"R Do","year":"2015","journal-title":"Nature"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"2453","DOI":"10.1002\/ajmg.a.37829","article-title":"Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy","volume":"170","author":"H Fukushima","year":"2016","journal-title":"Am J Med Genet A"},{"key":"ref42","doi-asserted-by":"publisher","first-page":"4442","DOI":"10.1038\/srep04442","article-title":"Moyamoya disease-associated protein mysterin\/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state","volume":"4","author":"D Morito","year":"2014","journal-title":"Sci Rep"},{"key":"ref43","doi-asserted-by":"publisher","first-page":"16161","DOI":"10.1038\/srep16161","article-title":"Neuromuscular regulation in zebrafish by a large AAA+ ATPase\/ubiquitin ligase, mysterin\/RNF213","volume":"5","author":"Y Kotani","year":"2015","journal-title":"Sci Rep"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"e002146","DOI":"10.1161\/JAHA.115.002146","article-title":"Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo","volume":"4","author":"H Kobayashi","year":"2015","journal-title":"J Am Heart Assoc"},{"key":"ref45","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.bbrc.2013.07.004","article-title":"Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients","volume":"438","author":"T Hitomi","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"ref46","doi-asserted-by":"publisher","first-page":"e0163561","DOI":"10.1371\/journal.pone.0163561","article-title":"Cellular Functions and Gene and Protein Expression Profiles in Endothelial Cells Derived from Moyamoya Disease-Specific iPS Cells","volume":"11","author":"S Hamauchi","year":"2016","journal-title":"PLoS One"},{"key":"ref47","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1016\/j.bbrc.2013.08.067","article-title":"The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality","volume":"439","author":"T Hitomi","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"ref48","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.devcel.2015.12.015","article-title":"Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT\/Ca(2+)\/NFAT Signaling","volume":"36","author":"B Scholz","year":"2016","journal-title":"Dev Cell"},{"key":"ref49","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1016\/j.tem.2012.06.001","article-title":"Wnt signaling in cardiovascular physiology","volume":"23","author":"K Marinou","year":"2012","journal-title":"Trends Endocrinol Metab"},{"key":"ref50","doi-asserted-by":"publisher","first-page":"88","DOI":"10.4103\/2394-8108.166377","article-title":"Review of past and present research on experimental models of moyamoya disease","volume":"1","author":"S Hamauchi","year":"2015","journal-title":"Brain Circ"},{"key":"ref51","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1161\/01.STR.14.1.50","article-title":"Histopathology of the brain vascular network in moyamoya disease","volume":"14","author":"M Yamashita","year":"1983","journal-title":"Stroke"},{"issue":"Suppl 2","key":"ref52","doi-asserted-by":"publisher","first-page":"S203","DOI":"10.1016\/S0303-8467(97)00044-9","article-title":"Histopathological studies on spontaneous occlusion of the circle of Willis (cerebrovascular moyamoya disease)","volume":"99","author":"Y Hosoda","year":"1997","journal-title":"Clin Neurol Neurosurg"},{"key":"ref53","doi-asserted-by":"publisher","first-page":"1","DOI":"10.2176\/nmc.47.1","article-title":"Histological features of middle cerebral arteries from patients treated for Moyamoya disease","volume":"47","author":"Y Takagi","year":"2007","journal-title":"Neurol Med Chir (Tokyo)"},{"key":"ref54","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1161\/01.STR.22.11.1358","article-title":"Systemic vascular changes in spontaneous occlusion of the circle of Willis","volume":"22","author":"E Ikeda","year":"1991","journal-title":"Stroke"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0175649","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,21]],"date-time":"2019-09-21T00:02:44Z","timestamp":1569024164000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0175649"}},"subtitle":[],"editor":[{"given":"Johnson","family":"Rajasingh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,4,17]]},"references-count":54,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,4,17]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0175649","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,17]]}}}