دورية أكاديمية
The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea
| العنوان: | The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea |
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| المساهمون: | Young Seok Park, Hui Jeong An, Jung Oh Kim, Won Seop Kim, In Bo Han, Ok Joon Kim, Nam Keun Kim, Dong-Seok Kim, Kim, Dong Seok |
| بيانات النشر: | MDPI |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Adenosine Triphosphatases / genetics, Adolescent, Adult, Alleles, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Male, Moyamoya Disease / genetics, Polymorphism, Single Nucleotide, Population Groups / genetics, Republic of Korea, Ubiquitin-Protein Ligases / genetics, Young Adult, RNF213, cerebrovascular disease, genetic, moyamoya disease, single nucleotide polymorphism, stroke |
| الوصف: | Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknown. This study investigated the mutation analysis of RNF213 (4448, 4810, 4863, and 4950) between Korean MMD and healthy controls. We performed a polymerase chain reaction-restriction fragment length polymorphism analysis. To identify the association between RNF213 gene polymorphisms and MMD disease, we performed statistical analyses such as multivariable logistic regression and Fisher's exact test. Genetic data from 117 MMD patients were analyzed and compared with 253 healthy controls. We assessed and compared single nucleotide polymorphisms of RNF213 (4448, 4810, 4863, and 4950) between MMD and control groups. We performed genome-wide association studies to investigate the genetic pathophysiology of MMD. Among the RNF213 variants (4448G>A, 4810G>A, 4863G>A, and 4950G>A), RNF213 4810G>A and 4950G>A variants were more frequent in MMD patients. In a subgroup analysis, the RNF213 4810G>A was more frequent in moyamoya disease, and the comparison with GG+AA genotype was also significantly different in moyamoya patients. These results confirm that RNF213 4810G>A and RNF213 4950G>A were more frequent in MMD patients. We have confirmed that RNF213 4810G>A and 4950G>A are strongly associated with Korean MMD in children and adults as well as for the ischemic and hemorrhagic types. ; open |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1661-6596 1422-0067 |
| العلاقة: | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; J01133; OAK-2017-1156; OAK-2017-1448; OAK-2017-1449; https://ir.ymlib.yonsei.ac.kr/handle/22282913/195725Test; T992017261; INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, Vol.18(11) : 2477, 2017-11 |
| DOI: | 10.3390/ijms18112477 |
| الإتاحة: | https://doi.org/10.3390/ijms18112477Test https://ir.ymlib.yonsei.ac.kr/handle/22282913/195725Test |
| حقوق: | CC BY-NC-ND 2.0 KR |
| رقم الانضمام: | edsbas.85483FE3 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 16616596 14220067 |
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| DOI: | 10.3390/ijms18112477 |