RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans.
BACKGROUND
The rs112735431 polymorphism of the RNF213, a susceptibility variant for moyamoya disease (MMD), may be associated with non-MMD intracranial artery steno-occlusive disease of non-MMD type (non-MMD ICAD) in Asian. We investigated whether the rs112735431 polymorphism of the RNF213 affect the development of non-MMD ICAD in Koreans compared to MMD and control group.


METHODS
We included 31 patients with non-MMD ICAD, 25 patients with MMD, and 100 participants as control group. The rs112735431 polymorphism of the RNF213 was evaluated by polymerase chain reaction amplification of target and detection by restriction fragment length polymorphism analysis. Clinical phenotype was compared between patients with and without the rs112735431 polymorphism in non-MMD ICAD and MMD.


RESULTS
The rs112735431 polymorphism of the RNF213 was significantly associated with non-MMD ICAD (p=0.001; odds ratio, 14.3; 95% confidence interval, 2.80-73.2) and MMD (p<0.0001; odds ratio, 126.0; 95% confidence interval, 24.2-656.0). The rate of hypertension was more frequent in MMD with the rs112735431 polymorphism than MMD without polymorphism (p=0.010).


CONCLUSIONS
The rs112735431 polymorphism of the RNF213 is highly associated not only with MMD but also with non-MMD ICAD in Koreans. Also, our study suggests that the rs112735431 polymorphism of the RNF213 may be linked to the hypertension in MMD. Further studies are needed to clarify the relationship between the rs112735431 polymorphism of the RNF213 and hypertension in patients with MMD.
Departments of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
Min-Gyu
MG
Park
Departments of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
Jin-Hong
JH
Shin
Departments of Neurosurgery, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
Sang Weon
SW
Lee
Departments of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
Hae Rim
HR
Park
Departments of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea. Electronic address: kppark@pusan.ac.kr.
Kyung-Pil
KP
Park
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D020765:Intracranial Arterial Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D018810:Magnetic Resonance Angiography; D008297:Male; D008875:Middle Aged; D009072:Moyamoya Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D056910:Republic of Korea; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases
Cerebral arterial diseases; Genetics; Moyamoya disease; Stroke