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Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population

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  • Published:
Environmental Health and Preventive Medicine Aims and scope

Abstract

Objectives

RNF213 p.R4810K is a founder polymorphism that confers genetic susceptibility to moyamoya disease in East Asia. Only a few studies have investigated the symptoms and disease histories of RNF213 p.R4810K carriers in Japan. This study investigated the frequency of RNF213 p.R4810K in the general Japanese population and the health characteristics of the carriers.

Methods

Through a health-promotion campaign in the city of Uji, Japan, 519 subjects (120 males and 399 females) of the general Japanese population were genotyped for RNF213 p.R4810K and interviewed to determine health characteristics.

Results

Nine RNF213 p.R4810K heterozygous carriers (GA genotype) and no RNF213 p.R4810K homozygous carriers (AA genotype) were found among the 519 individuals. The estimates of the genotypes and allele frequencies for RNF213 p.R4810K were 1.73 and 0.87 %, respectively. There were no obvious differences in age, gender ratio, body mass index, hypertension, dyslipidemia, diabetes, kidney disease, liver disease, heart disease, or drinking or smoking habits between carriers and non-carriers. Interestingly, one patient with moyamoya disease was found among the nine RNF213 p.R4810K carriers.

Conclusions

This study showed the genotypes and allele frequencies of RNF213 p.R4810K in the general Japanese population to be similar to results of previous reports.

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Acknowledgments

This study was supported by The Japan Society for the Promotion of Science KAKENHI [Grants-In-Aid for Scientific Research (A): 25253047 to AK and for Encouragement of Young Scientists (B): 15K19243 to HK] (http://www.jsps.go.jp/english/) and by a grant from the Research Committee on Spontaneous Occlusion of the circle of Willis of the Ministry of Health, Labour and Welfare of Japan (No. H26-Nanjito-Ippan-078) (http://www.mhlw.go.jp/english/policy/other/research-projects/index.html). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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Authors and Affiliations

  1. Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan

    Yang Cao, Hatasu Kobayashi, Takaaki Morimoto, Risako Kabata, Kouji H. Harada & Akio Koizumi

  2. Department of Neurosurgery, Kyoto University Graduate School of Medicine, Shogoin Kawahara, Sakyo-ku, Kyoto, 606-8507, Japan

    Takaaki Morimoto

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  1. Yang Cao
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  2. Hatasu Kobayashi
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  3. Takaaki Morimoto
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  4. Risako Kabata
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  5. Kouji H. Harada
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  6. Akio Koizumi
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Corresponding author

Correspondence to Akio Koizumi.

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Conflict of interest

Prof. Koizumi has a registered patent regarding MMD: JP2010068737 ‘MOYAMOYA DISEASE-RELATED GENE AND UTILIZATION OF SAME’. No conflicts of interests exist for the other authors.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Cao, Y., Kobayashi, H., Morimoto, T. et al. Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population. Environ Health Prev Med 21, 387–390 (2016). https://doi.org/10.1007/s12199-016-0549-8

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  • DOI: https://doi.org/10.1007/s12199-016-0549-8

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