title: Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.
abstract: BACKGROUND
  Moyamoya disease (MMD) is a progressive steno-occlusive vasculopathy that involves large intracranial arteries accompanied by abnormal collateral vessels. Recently, RNF213 was identified as a susceptibility gene for MMD and p.Arg4810Lys (rs112735431) is the most common variant in East Asian MMD patients. Interestingly, many studies have reported that a certain proportion of the general population in Japan, Korea, and China also has this variant. In this study, we investigated the frequency of this variant and estimated an odds ratio of MMD using two different Korean populations.
  
  
  METHODS
  A total of 1,516 anonymous DNA samples, 799 from an umbilical cord blood bank and 717 from routine health-checked adults, were genotyped using targeted Sanger sequencing.
  
  
  RESULTS
  The p.Arg4810Lys variant was detected at genotype frequencies of 2.25% (18/799; 95% confidence interval (CI), 1.43-3.53%) in cord blood samples and 2.65% (19/717; 95% CI, 1.70-4.10%) in adult samples, respectively. This variant showed a strong association with MMD (P < 0.001), giving an odds ratio of 162.7 (95% CI, 65.5-403.9) and 137.8 (95% CI, 55.8-339.9) based on the cord blood and adults samples, respectively.
  
  
  CONCLUSIONS
  These results confirm that the RNF213 p.Arg4810Lys variant is not uncommon in the general Korean population and provide reference data for the association of this variant and MMD.
authors.affiliation: Department of Laboratory Medicine, Korea University College of Medicine, Seoul, 08308, South Korea. miaeyaho@gmail.com.
authors.forename: Mi-Ae
authors.initials: MA
authors.lastname: Jang
authors.affiliation: Department of Laboratory Medicine, Boramae Hospital, Seoul National University College of Medicine, Seoul, 07061, South Korea. jeannie@snu.ac.kr.
authors.forename: Sue
authors.initials: S
authors.lastname: Shin
authors.affiliation: Department of Laboratory Medicine, Boramae Hospital, Seoul National University College of Medicine, Seoul, 07061, South Korea. slice@paran.com.
authors.forename: Jong Hyun
authors.initials: JH
authors.lastname: Yoon
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 34141, South Korea. changski@skku.edu.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000251:Adenosine Triphosphatases; D000328:Adult; D001120:Arginine / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D009072:Moyamoya Disease / Q000235:genetics*; D056910:Republic of Korea; D044767:Ubiquitin-Protein Ligases / Q000737:chemistry / Q000235:genetics*
chemical_list: D001120:Arginine; C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases; D008239:Lysine