دورية أكاديمية
أعرض في EDS

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.

التفاصيل البيبلوغرافية
العنوان: Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.
المؤلفون: Moteki Y; Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University, Tokyo, Japan (Y.M., H.O., T.Y., Y.O.)., Onda H; Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University, Tokyo, Japan (Y.M., H.O., T.Y., Y.O.)., Kasuya H; Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan (H.K., K.H., H.A.) Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan (H.K., K.H., S.M., H.A.)., Yoneyama T; Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University, Tokyo, Japan (Y.M., H.O., T.Y., Y.O.)., Okada Y; Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University, Tokyo, Japan (Y.M., H.O., T.Y., Y.O.)., Hirota K; Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan (H.K., K.H., H.A.) Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan (H.K., K.H., S.M., H.A.)., Mukawa M; Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan (M.M., T.N.)., Nariai T; Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan (M.M., T.N.)., Mitani S; Department of Physiology, Tokyo Women's Medical University, Tokyo, Japan (S.M.) Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan (H.K., K.H., S.M., H.A.)., Akagawa H; Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan (H.K., K.H., H.A.) Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan (H.K., K.H., S.M., H.A.).
المصدر: Journal of the American Heart Association [J Am Heart Assoc] 2015 May 11; Vol. 4 (5). Date of Electronic Publication: 2015 May 11.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Oxford : Wiley-Blackwell
مواضيع طبية MeSH: Mutation, Missense*, Moyamoya Disease/*genetics , Ubiquitin-Protein Ligases/*genetics, Adenosine Triphosphatases ; Adult ; Aged ; Aged, 80 and over ; Exome/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Japan ; Male ; Middle Aged ; Polymorphism, Genetic
مستخلص: Background: A founder variant of RNF213, p.R4810K (c.14429G>A, rs112735431), was recently identified as a major genetic risk factor for moyamoya disease (MMD) in Japan. Although the association of p.R4810K was reported to be highly significant and reproducible, the disease susceptibility of other RNF213 variants remains largely unknown. In the present study, we systematically evaluated the coding variants detected in Japanese patients and controls for associations with MMD.
Methods and Results: To detect variants of RNF213, all coding exons were sequenced in 27 Japanese MMD patients without p.R4810K. We also validated all previously reported variants in our case-control samples and tested for associations in combination with previous Japanese study cohorts, including the 1000 Genomes Project data set, as population-based controls. Forty-six missense variants other than p.R4810K were identified among 370 combined patients and 279 combined controls in Japan. Sixteen of 46 variants were polymorphisms with minor allele frequency >1%, and, after conditioning on the p.R4810K genotype, were not associated with MMD. We conducted a variable threshold test using Combined Annotation-Dependent Depletion on the remaining 30 rare variants (minor allele frequency <1%), and the results showed that the frequency of potentially functional variants was significantly higher in patients than in controls (permutation, minimum P=0.045).
Conclusions: Not only p.4810K but also other functional missense variants of RNF213 conferred susceptibility to MMD. Our analysis also revealed that ≈20% of Japanese MMD patients did not harbor susceptibility variants of RNF213, indicating the presence of other susceptibility genes for MMD.
(© 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.)
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فهرسة مساهمة: Keywords: cerebrovascular disorders; epidemiology; genetics; risk factors
المشرفين على المادة: EC 2.3.2.27 (RNF213 protein, human)
EC 2.3.2.27 (Ubiquitin-Protein Ligases)
EC 3.6.1.- (Adenosine Triphosphatases)
SCR Disease Name: Moyamoya disease 1
تواريخ الأحداث: Date Created: 20150513 Date Completed: 20160205 Latest Revision: 20181113
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC4599414
DOI: 10.1161/JAHA.115.001862
PMID: 25964206
قاعدة البيانات: MEDLINE
الوصف
تدمد:2047-9980
DOI:10.1161/JAHA.115.001862