Identifying RNF213 as a Gene Linked to Moyamoya Disease
Author Information
Author(s): Liu Wanyang, Morito Daisuke, Takashima Seiji, Mineharu Yohei, Kobayashi Hatasu, Hitomi Toshiaki, Hashikata Hirokuni, Matsuura Norio, Yamazaki Satoru, Toyoda Atsushi, Kikuta Ken-ichiro, Takagi Yasushi, Harada Kouji H., Fujiyama Asao, Herzig Roman, Krischek Boris, Zou Liping, Kim Jeong Eun, Kitakaze Masafumi, Miyamoto Susumu, Nagata Kazuhiro, Hashimoto Nobuo, Koizumi Akio
Primary Institution: Kyoto University
Hypothesis
Is RNF213 a susceptibility gene for moyamoya disease?
Conclusion
The study provides evidence that RNF213 is involved in genetic susceptibility to moyamoya disease.
Supporting Evidence
- Genome-wide linkage analysis revealed a significant association of RNF213 with moyamoya disease.
- Exome analysis identified the p.R4810K variant in RNF213 as a strong candidate for susceptibility.
- Case-control studies showed a high odds ratio for the association of p.R4810K with moyamoya disease in East Asian populations.
- Variants in RNF213 were not found in Caucasian controls, indicating genetic heterogeneity.
Takeaway
Researchers found a gene called RNF213 that can make people more likely to get a brain condition called moyamoya disease.
Methodology
The study used genome-wide linkage analysis, exome analysis, and case-control studies to identify genetic variants associated with moyamoya disease.
Potential Biases
Potential genetic heterogeneity between East Asian and Caucasian populations.
Limitations
The study could not provide evidence regarding the impairment of physiological function of the variants in RNF213.
Participant Demographics
Participants included 251 cases from East Asian populations (Japanese, Korean, Chinese) and 50 Caucasian cases.
Statistical Information
P-Value
10−100
Confidence Interval
95% CI between 29.39 and 77.81
Statistical Significance
p<10−100
Digital Object Identifier (DOI)
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