Yang Cao1, Hatasu Kobayashi1, Takaaki Morimoto1,2, Risako Kabata1, Kouji H Harada1, Akio Koizumi3. 1. Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Sakyo-ku, Kyoto, 606-8501, Japan. 2. Department of Neurosurgery, Kyoto University Graduate School of Medicine, Shogoin Kawahara, Sakyo-ku, Kyoto, 606-8507, Japan. 3. 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.
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.
OBJECTIVES:RNF213p.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 RNF213p.R4810K carriers in Japan. This study investigated the frequency of RNF213p.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 RNF213p.R4810K and interviewed to determine health characteristics. RESULTS: Nine RNF213p.R4810K heterozygous carriers (GA genotype) and no RNF213p.R4810K homozygous carriers (AA genotype) were found among the 519 individuals. The estimates of the genotypes and allele frequencies for RNF213p.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 RNF213p.R4810K carriers. CONCLUSIONS: This study showed the genotypes and allele frequencies of RNF213p.R4810K in the general Japanese population to be similar to results of previous reports.
Entities:
Keywords:
General population; Japan; Moyamoya disease; RNF213; p.R4810K
Authors: Akio Koizumi; Hatasu Kobayashi; Wanyang Liu; Yukiko Fujii; S T M L D Senevirathna; Shanika Nanayakkara; Hiroko Okuda; Toshiaki Hitomi; Kouji H Harada; Katsunobu Takenaka; Takao Watanabe; Shinichiro Shimbo Journal: Environ Health Prev Med Date: 2012-08-10 Impact factor: 3.674