Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea
Ist Teil von
International journal of molecular sciences, 2017-11, Vol.18 (11), p.2477
Ort / Verlag
Switzerland: MDPI AG
Erscheinungsjahr
2017
Link zum Volltext
Quelle
EZB Electronic Journals Library
Beschreibungen/Notizen
Although a founder variant of
4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of
variants remain largely unknown. This study investigated the mutation analysis of
(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
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
(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
variants (4448G>A, 4810G>A, 4863G>A, and 4950G>A),
4810G>A and 4950G>A variants were more frequent in MMD patients. In a subgroup analysis, the
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
4810G>A and
4950G>A were more frequent in MMD patients. We have confirmed that
4810G>A and 4950G>A are strongly associated with Korean MMD in children and adults as well as for the ischemic and hemorrhagic types.