title: Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan.
authors.forename: Yang
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan.
authors.forename: Hatasu
authors.initials: H
authors.lastname: Kobayashi
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan.|Department of Neurosurgery, Kyoto University Graduate School of Medicine, Shogoin Kawahara, Sakyo-ku, Kyoto, 606-8507, Japan.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Morimoto
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan.
authors.forename: Risako
authors.initials: R
authors.lastname: Kabata
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan.
authors.forename: Kouji H
authors.initials: KH
authors.lastname: Harada
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan. koizumi.akio.5v@kyoto-u.ac.jp.
authors.forename: Akio
authors.initials: A
authors.lastname: Koizumi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D000368:Aged; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009072:Moyamoya Disease / Q000453:epidemiology* / Q000235:genetics; D011110:Polymorphism, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000378:metabolism
chemical_list: C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases
keywords: General population; Japan; Moyamoya disease; RNF213; p.R4810K