The association between the Moyamoya disease susceptible gene RNF213 variant and incident cardiovascular disease in a general population: the Nagahama study.


Journal

Journal of hypertension
ISSN: 1473-5598
Titre abrégé: J Hypertens
Pays: Netherlands
ID NLM: 8306882

Informations de publication

Date de publication:
01 12 2021
Historique:
entrez: 5 11 2021
pubmed: 6 11 2021
medline: 30 12 2021
Statut: ppublish

Résumé

An association between the Moyamoya disease susceptible gene ring finger protein 213 (RNF213) variant and ischemic stroke and coronary artery disease has been suggested in case-control studies. We aimed to investigate the possible association between the RNF213 variant and the incidence of cardiovascular disease in a general population. The study participants consisted of 9153 Japanese community residents without history of cardiovascular disease. The clinical parameters employed in this analysis were observed at baseline between 2008 and 2010. The RNF213 p.R4859K variant was determined by TaqMan probe assay and then confirmed by Sanger sequencing. During 8.52 years follow-up period, we observed 214 incident cases of cardiovascular diseases (99 total stroke cases, 119 major adverse cardiac event cases, including 4 cases of both). The incidence rate was higher for the variant allele carriers (120 cases; incidence rate, 71.0 per 10 000 person-years) than for the homozygotes of the wild-type allele (26.9), and the group differences achieved statistical significance (P = 0.009). Although the RNF213 variant was also associated with systolic blood pressure (dominant model: coefficient of 8.19 mmHg; P < 0.001), the Cox regression analysis adjusted for major covariates including systolic blood pressure identified the RNF213 variant as an independent determinant for cardiovascular disease (hazard ratio of 3.41, P = 0.002) and major adverse cardiac event (hazard ratio of 3.80, P = 0.010) but not with total stroke (P = 0.102). The Moyamoya disease susceptible RNF213 variant was associated with blood pressure and the incidence of cardiovascular disease in a Japanese general population.

Identifiants

pubmed: 34738993
doi: 10.1097/HJH.0000000000002964
pii: 00004872-202112000-00023
doi:

Substances chimiques

RNF213 protein, human EC 2.3.2.27
Ubiquitin-Protein Ligases EC 2.3.2.27
Adenosine Triphosphatases EC 3.6.1.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2521-2526

Informations de copyright

Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

Références

Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl J Med 2009; 360:1226–1237.
Baba T, Houkin K, Kuroda S. Novel epidemiological features of moyamoya disease. J Neurol Neurosurg Psychiatry 2008; 79:900–904.
Ahn IM, Park DH, Hann HJ, Kim KH, Kim HJ, Ahn HS. Incidence, prevalence, and survival of Moyamoya disease in Korea: a nationwide, population-based study. Stroke 2014; 45:1090–1095.
Chiu D, Shedden P, Bratina P, Grotta JC. Clinical features of moyamoya disease in the United States. Stroke 1998; 29:1347–1351.
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 2011; 56:34–40.
Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, et al. Identification of RNF213 as a susceptibility gene for Moyamoya disease and its possible role in vascular development. PLoS One 2011; 6:e22542doi: 10.1371/journal.pone.0022542.
doi: 10.1371/journal.pone.0022542
Nomura S, Yamaguchi K, Akagawa H, Kawashima A, Moteki Y, Ishikawa T, et al. Genotype–phenotype correlation in long-term cohort of Japanese patients with Moyamoya disease. Cerebrovasc Dis 2019; 47:105–111.
Duan L, Wei L, Tian Y, Zhang Z, Hu P, Wei Q, et al. Novel susceptibility loci for Moyamoya disease revealed by a genome-wide association study. Stroke 2018; 49:11–18.
Wang Y, Zhang Z, Wei L, Zhang Q, Zou Z, Yang L, et al. Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese Moyamoya disease. Neurology 2020; 94:e678–e686.
Miyawaki S, Imai H, Takayanagi S, Mukasa A, Nakatomi H, Saito N. Identification of a genetic variant common to Moyamoya disease and intracranial major artery stenosis/occlusion. Stroke 2012; 43:3371–3374.
Hongo H, Miyawaki S, Imai H, Shimizu M, Yagi S, Mitsui J, et al. Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis. Sci Rep 2020; 10:11942doi: 10.1038/s41598-020-68888-1.
doi: 10.1038/s41598-020-68888-1
Kim HJ, Choi EH, Chung JW, Kim JH, Kim YS, Seo WK, et al. Luminal and wall changes in intracranial arterial lesions for predicting stroke occurrence. Stroke 2020; 51:2495–2504.
Kamimura T, Okazaki S, Morimoto T, Kobayashi H, Harada K, Tomita T, et al. Prevalence of RNF213 p.R4810K variant in early-onset stroke with intracranial arterial stenosis. Stroke 2019; 50:1561–1563.
Okazaki S, Morimoto T, Kamatani Y, Kamimura T, Kobayashi H, Harada K, et al. Moyamoya disease susceptibility variant RNF213 p.R4810K increases the risk of ischemic stroke attributable to large-artery atherosclerosis. Circulation 2019; 139:295–298.
Morimoto T, Mineharu Y, Ono K, Nakatochi M, Ichihara S, Kabata R, et al. Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease. PLoS One 2017; 12:e0175649doi: 10.1371/journal.pone.0175649.
doi: 10.1371/journal.pone.0175649
Koizumi A, Kobayashi H, Liu W, Fujii Y, Senevirathna ST, Nanayakkara S, et al. P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure. Environ Health Prev Med 2013; 18:121–129.
Funada S, Tabara Y, Setoh K, Negoro H, Akamatsu S, Yoshino T, et al. Impact of nocturia on mortality: the Nagahama study. J Urol 2020; 204:996–1002.
Kawashima-Kumagai K, Tabara Y, Yamashiro K, Setoh K, Yoshikawa M, Kawaguchi T, et al. Nagahama Study group. Association of retinal vessel calibers and longitudinal changes in arterial stiffness: the Nagahama study. J Hypertens 2018; 36:587–593.
Yamashina A, Tomiyama H, Takeda K, Tsuda H, Arai T, Hirose K, et al. Validity, reproducibility, and clinical significance of noninvasive brachial-ankle pulse wave velocity measurement. Hypertens Res 2002; 25:359–364.
Nishimura K, Okamura T, Watanabe M, Nakai M, Takegami M, Higashiyama A, et al. Predicting coronary heart disease using risk factor categories for a Japanese urban population, and comparison with the Framingham Risk Score: the Suita study. J Atheroscler Thromb 2014; 21:784–798.
Ridker PM, Buring JE, Rifai N, Cook NR. Development and validation of improved algorithms for the assessment of global cardiovascular risk in women: the Reynolds Risk Score. JAMA 2007; 297:611–619.
WHO MONICA Project. MONICA Manual. 1998–1999. http://www.ktl.fi/publications/monica/manual/index.htm , URN:NBN:fi-fe19981146.
Dehghan A, Bis JC, White CC, Smith AV, Morrison AC, Cupples LA, et al. Genome-wide association study for incident myocardial infarction and coronary heart disease in prospective cohort studies: the CHARGE Consortium. PLoS One 2016; 11:e0144997doi: 10.1371/journal.pone.0144997.
doi: 10.1371/journal.pone.0144997
Matsunaga H, Ito K, Akiyama M, Takahashi A, Koyama S, Nomura S, 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:e002670doi: 10.1161/CIRCGEN.119.002670.
doi: 10.1161/CIRCGEN.119.002670
Nikpay M, Goel A, Won HH, Hall LM, Willenborg C, Kanoni S, et al. A comprehensive 1,000 genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet 2015; 47:1121–1130.
Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, et al. NHLBI Exome Sequencing Project. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 2015; 518:102–106.
Yusuf S, Joseph P, Rangarajan S, Islam S, Mente A, Hystad P, et al. Modifiable risk factors, cardiovascular disease, and mortality in 155 722 individuals from 21 high-income, middle-income, and low-income countries (PURE): a prospective cohort study. Lancet 2020; 395:795–808.
Inouye M, Abraham G, Nelson CP, Wood AM, Sweeting MJ, Dudbridge F, 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.
Hitomi T, Habu T, Kobayashi H, Okuda H, Harada KH, Osafune K, et al. 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. Biochem Biophys Res Commun 2013; 438:13–19.
Hamauchi S, Shichinohe H, Uchino H, Yamaguchi S, Nakayama N, Kazumata K, et al. Cellular functions and gene and protein expression profiles in endothelial cells derived from Moyamoya disease-specific iPS cells. PLoS One 2016; 11:e0163561doi: 10.1371/journal.pone.0163561.
doi: 10.1371/journal.pone.0163561
Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Isobe S, et al. Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension. J Heart Lung Transplant 2020; 39:103–112.
Evangelou E, Warren HR, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, et al. Million Veteran Program. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nat Genet 2018; 50:1412–1425.
Takashima N, Arima H, Kita Y, Fujii T, Miyamatsu N, Komori M, et al. Incidence, management and short-term outcome of stroke in a general population of 1.4 million Japanese – Shiga Stroke Registry. Circ J 2017; 81:1636–1646.
Yoshida M, Kita Y, Nakamura Y, Nozaki A, Okayama A, Sugihara H, et al. Incidence of acute myocardial infarction in Takashima, Shiga, Japan. Circ J 2005; 69:404–408.
Hata J, Ninomiya T, Hirakawa Y, Nagata M, Mukai N, Gotoh S, et al. Secular trends in cardiovascular disease and its risk factors in Japanese: half-century data from the Hisayama Study (1961–2009). Circulation 2013; 128:1198–1205.
Kimura K, Kimura T, Ishihara M, Nakagawa Y, Nakao K, Miyauchi K, et al. Japanese Circulation Society Joint Working Group. JCS 2018 guideline on diagnosis and treatment of acute coronary syndrome. Circ J 2019; 83:1085–1196.
Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, et al. University of Washington Center for Mendelian Genomics. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke 2014; 45:3200–3207.

Auteurs

Yasuharu Tabara (Y)

Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto.
Graduate School of Public Health, Shizuoka Graduate University of Public Health, Aoi-ku, Shizuoka.

Hitomi Yamada (H)

Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Sakyo-ku, Kyoto.

Kazuya Setoh (K)

Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto.

Manami Matsukawa (M)

Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Sakyo-ku, Kyoto.

Meiko Takahashi (M)

Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto.

Takahisa Kawaguchi (T)

Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto.

Takeo Nakayama (T)

Graduate School of Public Health, Shizuoka Graduate University of Public Health, Aoi-ku, Shizuoka.
Department of Health Informatics, Kyoto University School of Public Health, Sakyo-ku, Kyoto, Japan.

Fumihiko Matsuda (F)

Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto.
Graduate School of Public Health, Shizuoka Graduate University of Public Health, Aoi-ku, Shizuoka.

Shinji Kosugi (S)

Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Sakyo-ku, Kyoto.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH