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susceptibility loci. Nat Genet 2010; 42: 703-706. PMID: 20622879 420. Remmers EF, Cosan F, Kirino Y, et al. Genome-wide association study identifies variants in the MHC class I, IL 10, and IL 23R- IL 12RB 2 regions associated with Behçet’s disease. Nat Genet 2010; 42: 698-702. PMID: 20622878 421. Kirino Y, Bertsias G, Ishigatsubo Y, et al. Genome-wide association analysis identifies new susceptibility loci for Behçet’s disease and epistasis between HLA-B* 51 and ERAP 1. Nat Genet 2013; 45: 202-207. PMID: 23291587 422. Kirino Y, Zhou Q, Ishigatsubo Y, et al. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. Proc Natl Acad Sci U S A 2013; 110: 8134-8139. PMID: 23633568 423. Takeuchi M, Mizuki N, Meguro A, et al. Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet’s disease susceptibility. Nat Genet 2017; 49: 438-443. PMID: 28166214 424. Murabito JM, White CC, Kavousi M, et al. Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet 2012; 5: 100-112. PMID: 22199011 425. Matsukura M, Ozaki K, Takahashi A, et al. Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population. PLoS One 2015; 10: e0139262. PMID: 26488411 426. Kullo IJ, Shameer K, Jouni H, et al. The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. Front Genet 2014; 5: 166. PMID: 25009551 427. Klarin D, Lynch J, Aragam K, et al. Genome-wide association study of peripheral artery disease in the Million Veteran Program. Nat Med 2019; 25: 1274-1279. PMID: 31285632 428. van Zuydam NR, Stiby A, Abdalla M, et al. Genome-Wide Association Study of Peripheral Artery Disease. Circ Genom Precis Med 2021; 14: e002862. PMID: 34601942 429. Thorgeirsson TE, Geller F, Sulem P, et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 2008; 452: 638-642. PMID: 18385739 430. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67. PMID: 8164741 431. St Hilaire C, Ziegler SG, Markello TC, et al. NT5E mutations and arterial calcifications. N Engl J Med 2011; 364: 432-442. PMID: 21288095 432. Azuma N, Uchida T, Kikuchi S, et al. NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia. Circ J 2020; 84: 1183- 1188. PMID: 32522903 433. Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000; 25: 223-227. PMID: 10835642 434. Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000; 25: 228-231. PMID: 10835643 435. Lorenz-Depiereux B, Schnabel D, Tiosano D, et al. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010; 86: 267-272. PMID: 20137773 436. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPP 1 are associated with ‘idiopathic’ infantile arterial calcification. Nat Genet 2003; 34: 379-381. PMID: 12881724 437. Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012; 90: 25-39. PMID: 22209248 438. Shea S, Ottman R, Gabrieli C, et al. Family history as an independent risk factor for coronary artery disease. J Am Coll Cardiol 1984; 4: 793-801. PMID: 6481018 439. Rissanen AM. Familial occurrence of coronary heart disease: Effect of age at diagnosis. Am J Cardiol 1979; 44: 60-66. PMID: 453047 440. Yamada Y, Izawa H, Ichihara S, et al. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med 2002; 347: 1916-1923. PMID: 12477941 441. Ozaki K, Ohnishi Y, Iida A, et al. Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction. Nat Genet 2002; 32: 650-654. PMID: 12426569 442. Lu X, Wang L, Chen S, et al. Coronary ARtery DIsease Genome- Wide Replication And Meta-Analysis (CARDIoGRAM) Consortium. Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. Nat Genet 2012; 44: 890-894. PMID: 22751097 443. Howson JMM, Zhao W, Barnes DR, et al. CARDIoGRAMplusC4D. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. Nat Genet 2017; 49: 1113- 1119. PMID: 28530674 444. Nelson CP, Goel A, Butterworth AS, et al. EPIC-CVD Consortium. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nat Genet 2017; 49: 1385-1391. PMID: 28714975 445. Klarin D, Zhu QM, Emdin CA, et al. CARDIoGRAMplusC 4D Consortium. Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease. Nat Genet 2017; 49: 1392-1397. PMID: 28714974 446. van der Harst P, Verweij N. Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. Circ Res 2018; 122: 433- 443. PMID: 29212778 447. Webb TR, Erdmann J, Stirrups KE, et al. Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. J Am Coll Cardiol 2017; 69: 823- 836. PMID: 28209224 448. Tcheandjieu C, Zhu X, Hilliard AT, et al. Large-scale genomewide association study of coronary artery disease in genetically diverse populations. Nat Med 2022; 28: 1679- 1692. PMID: 35915156 449. Aragam KG, Jiang T, Goel A, et al. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat Genet 2022; 54: 1803- 1815. PMID: 36474045 450. Koyama S, Ito K, Terao C, et al. Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease. Nat Genet 2020; 52: 1169-1177. PMID: 33020668 451. Matsunaga H, Ito K, Akiyama M, et al. Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease. Circ Genom Precis Med 2020; 13: e 002670. PMID: 32469254 452. Sukhova GK, Shi GP, Simon DI, et al. Expression of the elastolytic cathepsins S and K in human atheroma and regulation of their production in smooth muscle cells. J Clin Invest 1998; 102: 576-583. PMID: 9691094 453. Rodgers KJ, Watkins DJ, Miller AL, et al. Destabilizing role of cathepsin S in murine atherosclerotic plaques. Arterioscler Thromb Vasc Biol 2006; 26: 851-856. PMID: 16410454 454. Hiroki J, Shimokawa H, Higashi M, et al. Inflammatory stimuli upregulate Rho-kinase in human coronary vascular smooth muscle cells. J Mol Cell Cardiol 2004; 37: 537-546. PMID: 15276023 455. Akiyama M, Okada Y, Kanai M, et al. Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. Nat Genet 2017; 49: 1458-1467. PMID: 28892062 456. Ishigaki K, Akiyama M, Kanai M, et al. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet 2020; 52: 669-679. PMID: 32514122 457. Yasue H, Kugiyama K. Coronary artery spasm: Japanese view. Coron Artery Dis 1990; 1: 668. 458. Pristipino C, Beltrame JF, Finocchiaro ML, et al. Major racial differences in coronary constrictor response between Japanese and Caucasians with recent myocardial infarction. Circulation 2000; 101: 1102-1108. PMID: 10715255 459. Caralis DG, Deligonul U, Kern MJ, et al. Smoking is a risk factor for coronary spasm in young women. Circulation 1992; 85: 905-909. PMID: 1537126 460. Sugiishi M, Takatsu F. Cigarette smoking is a major risk factor for coronary spasm. Circulation 1993; 87: 76-79. PMID: 8419026 461. Kugiyama K, Yasue H, Okumura K, et al. Nitric oxide activity is deficient in spasm arteries of patients with coronary spastic angina. Circulation 1996; 94: 266-271. PMID: 8759065 462. Yoshimura M, Yasue H, Nakayama M, et al. A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese. Hum Genet 1998; 103: 65-69. PMID: 9737779 463. Nakayama M, Yasue H, Yoshimura M, et al. T -786 →C mutation in the 5’-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 1999; 99: 2864- 2870. PMID: 10359729 464. Yoshimura M, Yasue H, Nakayama M, et al. Genetic risk factors for coronary artery spasm: significance of endothelial nitric oxide synthase gene T- 786 →C and missense Glu 298Asp variants.