p.105 抽出テキスト

J Investig Med 2000; 48: 367-374. PMID: 10979242 465. Tanus-Santos JE, Desai M, Flockhart DA. Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants. Pharmacogenetics 2001; 11: 719-725. PMID: 11692081 466. Nakano T, Osanai T, Tomita H, et al. Enhanced activity of variant phospholipase C-δ1 protein (R 257H) detected in patients with coronary artery spasm. Circulation 2002; 105: 2024-2029. PMID: 11980680 467. Okumura K, Osanai T, Kosugi T, et al. Enhanced phospholipase C activity in the cultured skin fibroblast obtained from patients with coronary spastic angina: possible role for enhanced vasoconstrictor response. J Am Coll Cardiol 2000; 36: 1847-1852. PMID: 11092655 468. Shibutani S, Osanai T, Ashitate T, et al. Coronary vasospasm induced in transgenic mouse with increased phospholipase C- δ 1 activity. Circulation 2012; 125: 1027-1036. PMID: 22265909 469. Dumont J, Meroufel D, Bauters C, et al. Association of ornithine transcarbamylase gene polymorphisms with hypertension and coronary artery vasomotion. Am J Hypertens 2009; 22: 993-1000. PMID: 19574962 470. Suzuki S, Yoshimura M, Nakayama M, et al. A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis. Pharmacogenet Genomics 2007; 17: 919-930. PMID: 18075462 471. Murase Y, Yamada Y, Hirashiki A, et al. Genetic risk and geneenvironment interaction in coronary artery spasm in Japanese men and women. Eur Heart J 2004; 25: 970-977. PMID: 15172469 472. Mizuno Y, Harada E, Morita S, et al. East asian variant of aldehyde dehydrogenase 2 is associated with coronary spastic angina: possible roles of reactive aldehydes and implications of alcohol flushing syndrome. Circulation 2015; 131: 1665- 1673. PMID: 25759460 473. Mizuno Y, Hokimoto S, Harada E, et al. Variant Aldehyde Dehydrogenase 2 (ALDH2*2) Is a Risk Factor for Coronary Spasm and ST-Segment Elevation Myocardial Infarction. J Am Heart Assoc 2016; 5: e003247. PMID: 27153870 474. Mizuno Y, Hokimoto S, Harada E, et al. Variant Aldehyde Dehydrogenase 2 (ALDH2*2) in East Asians Interactively Exacerbates Tobacco Smoking Risk for Coronary Spas ― Possible Role of Reactive Aldehydes. Circ J 2016; 81: 96-102. PMID: 27904031 475. Ishiyama H, Tanaka T, Yoshimoto T, et al. RNF 213 p.R 4810K Variant Increases the Risk of Vasospastic Angina. JACC Asia 2023; 3: 821-823. PMID: 38095003 476. Kamada F, Aoki Y, Narisawa A, et al. A genome-wide association study identifies RNF 213 as the first Moyamoya disease gene. J Hum Genet 2011; 56: 34-40. PMID: 21048783 477. Okazaki S, Morimoto T, Kamatani Y, et al. Moyamoya Disease Susceptibility Variant RNF 213 p.R 4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis. Circulation 2019; 139: 295-298. PMID: 30615506 478. Kamimura T, Okazaki S, Morimoto T, et al. Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis. Stroke 2019; 50: 1561-1563. PMID: 31060437 479. Suzuki H, Kataoka M, Hiraide T, et al. Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension. Circ Genom Precis Med 2 0 1 8 ; 11 : e002317. PMID: 30562119 480. Ito T, Yasue H, Yoshimura M, et al. Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm. Hum Genet 2002; 110: 89-94. PMID: 11810302 481. Mashiba J, Koike G, Kamiunten H, et al. Vasospastic angina and microvascular angina are differentially influenced by PON 1 A 632G polymorphism in the Japanese. Circ J 2005; 69: 1466- 1471. PMID: 16308493 482. Akasaka T, Sueta D, Arima Y, et al. Association of CYP2C19 variants and epoxyeicosatrienoic acids on patients with microvascular angina. Am J Physiol Heart Circ Physiol 2016; 311: H 1409- H1415. PMID: 27663770 483. Dai X, Wiernek S, Evans JP, et al. Genetics of coronary artery disease and myocardial infarction. World J Cardiol 2016; 8: 1-23. PMID: 26839654 484. Khera AV, Emdin CA, Drake I, et al. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med 2016; 375: 2349-2358. PMID: 27959714 485. Inouye M, Abraham G, Nelson CP, et al. UK Biobank CardioMetabolic Consortium CHD Working Group. Genomic Risk Prediction of Coronary Artery Disease in 480, 000 Adults: Implications for Primary Prevention. J Am Coll Cardiol 2018; 72: 1883- 1893. PMID: 30309464 486. Abraham G, Havulinna AS, Bhalala OG, et al. Genomic prediction of coronary heart disease. Eur Heart J 2016; 37: 3267- 3278. PMID: 27655226 487. Sandhu RK, Dron JS, Liu Y, et al. Polygenic Risk Score Predicts Sudden Death in Patients With Coronary Disease and Preserved Systolic Function. J Am Coll Cardiol 2022; 80: 873-883. PMID: 36007985 488. Kullo IJ, Jouni H, Austin EE, et al. Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial). Circulation 2016; 133: 1181- 1188. PMID: 26915630 489. Mega JL, Stitziel NO, Smith JG, et al. Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials. Lancet 2015; 385: 2264-2271. PMID: 25748612 490. Natarajan P, Young R, Stitziel NO, et al. Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation 2017; 135: 2091- 2101. PMID: 28223407 491. Damask A, Steg PG, Schwartz GG, et al. Regeneron Genetics Center and the ODYSSEY OUTCOMES Investigators. Patients With High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit From Alirocumab Treatment in the ODYSSEY OUTCOMES Trial. Circulation 2020; 141: 624-636. PMID: 31707832 492. Marston NA, Kamanu FK, Nordio F, et al. Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial. Circulation 2020; 141: 616-623. PMID: 31707849 493. Mujwara D, Henno G, Vernon ST, et al. Integrating a Polygenic Risk Score for Coronary Artery Disease as a Risk-Enhancing Factor in the Pooled Cohort Equation: A Cost-Effectiveness Analysis Study. J Am Heart Assoc 2022; 11: e 025236. PMID: 35699184 494. Polygenic Risk Score Task Force of the International Common Disease Alliance. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat Med 2021; 27: 1876- 1884. PMID: 34782789 495. Wand H, Lambert SA, Tamburro C, et al. Improving reporting standards for polygenic scores in risk prediction studies. Nature 2021; 591: 211-219. PMID: 33692554 496. O’Sullivan JW, Raghavan S, Marquez-Luna C, et al. Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association. Circulation 2022; 146: e93-e118. PMID: 35862132 497. Abu-El-Haija A, Reddi HV, Wand H, et al. ACMG Professional Practice and Guidelines Committee. The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2023; 25: 100803. PMID: 36920474 498. 日本循環器学会.肺高血圧症治療ガイドライン(2017 年改訂版). https://www.j-circ.or.jp/cms/wp-content/uploads/ 2017/ 10/ JCS2017_fukuda_h.pdf 499. Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J 2022; 43: 3618-3731. PMID: 36017548 500. Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J 2023; 61: 2200879. PMID: 36028254 501. Gräf S, Haimel M, Bleda M, et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun 2018; 9: 1416. PMID: 29650961 502. Montani D, Girerd B, Jaïs X, et al. Screening for pulmonary arterial hypertension in adults carrying a BMPR 2 mutation. Eur Respir J 2021; 58: 2004229. PMID: 33380512 503. Morrell NW, Aldred MA, Chung WK, et al. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J 2019; 53: 1801899. PMID: 30545973 504. Larkin EK, Newman JH, Austin ED, et al. Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med 2012; 186: 892-896. PMID: 22923661 505. Gamou S, Kataoka M, Aimi Y, et al. Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population. Clin Genet 2018; 94: 70-80. PMID: 29023671 506. Cogan JD, Pauciulo MW, Batchman AP, et al. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med 2006; 174: 590-598. PMID: 16728714