Single Nucleotide Polymorphism in Patients with Moyamoya Disease
Journal of Korean Neurosurgical Society
;
: 422-427, 2015.
Artículo
en Inglés
| WPRIM
| ID: wpr-73373
ABSTRACT
Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have not yet been identified, making identification of at-risk patients difficult before clinical manifestation. Familial MMD is not uncommon, with as many as 15% of MMD patients having a family history of the disease, suggesting a genetic etiology. Studies of single nucleotide polymorphisms (SNPs) in MMD have mostly focused on mechanical stress on vessels, endothelium, and the relationship to atherosclerosis. In this review, we discuss SNPs studies targeting the genetic etiology of MMD. Genetic analyses in familial MMD and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. This review also discusses future research directions, not only to offer new insights into the origin of MMD, but also to enhance our understanding of the genetic aspects of MMD. There have been several SNP studies of MMD. Current SNP studies suggest a genetic contribution to MMD, but further reliable and replicable data are needed. A large cohort or family-based design would be important. Modern SNP studies of MMD depend on novel genetic, experimental, and database methods that will hopefully hasten the arrival of a consensus conclusion.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Estrés Mecánico
/
Estudios de Cohortes
/
Accidente Cerebrovascular
/
Polimorfismo de Nucleótido Simple
/
Consenso
/
Endotelio
/
Aterosclerosis
/
Estudio de Asociación del Genoma Completo
/
Enfermedad de Moyamoya
Tipo de estudio:
Estudio de etiología
/
Guía de Práctica Clínica
/
Estudio de incidencia
/
Estudio observacional
/
Factores de riesgo
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Korean Neurosurgical Society
Año:
2015
Tipo del documento:
Artículo
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