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Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan

The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations. Numerous variant association studies for this MMD variant have be...

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Autores principales: TAKAMATSU, Yuichiro, HIGASHIMOTO, Ken, MAEDA, Toshiyuki, KAWASHIMA, Masatou, MATSUO, Muneaki, ABE, Tatsuya, MATSUSHIMA, Toshio, SOEJIMA, Hidenobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japan Neurosurgical Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709714/
https://www.ncbi.nlm.nih.gov/pubmed/28931766
http://dx.doi.org/10.2176/nmc.oa.2017-0036
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author TAKAMATSU, Yuichiro
HIGASHIMOTO, Ken
MAEDA, Toshiyuki
KAWASHIMA, Masatou
MATSUO, Muneaki
ABE, Tatsuya
MATSUSHIMA, Toshio
SOEJIMA, Hidenobu
author_facet TAKAMATSU, Yuichiro
HIGASHIMOTO, Ken
MAEDA, Toshiyuki
KAWASHIMA, Masatou
MATSUO, Muneaki
ABE, Tatsuya
MATSUSHIMA, Toshio
SOEJIMA, Hidenobu
author_sort TAKAMATSU, Yuichiro
collection PubMed
description The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations. Numerous variant association studies for this MMD variant have been performed in Japan to date. Since another genetic study that utilized approximately 140,000 single nucleotide polymor (SNPs) has indicated that there still are genetic differences among mainland Japanese, there is a possibility that the variant distribution in patients with MMD and normal individuals varies between different Japanese regions. Additionally, the majority of variant association studies have used Sanger sequencing, which is labor-intensive, time-consuming, and costly. In this study, we analyzed the frequency of the variant genotype in patients with MMD and normal individuals in Kyushu using pyrosequencing, which is an accurate, cost-effective, and automated method. We found differences in the genotype frequencies in familial patients from Kyushu and normal populations in Tohoku compared with west Japan, which suggested that there were differences in the frequency of the variant among different regions in Japan.
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spelling pubmed-57097142017-12-05 Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan TAKAMATSU, Yuichiro HIGASHIMOTO, Ken MAEDA, Toshiyuki KAWASHIMA, Masatou MATSUO, Muneaki ABE, Tatsuya MATSUSHIMA, Toshio SOEJIMA, Hidenobu Neurol Med Chir (Tokyo) Original Article The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations. Numerous variant association studies for this MMD variant have been performed in Japan to date. Since another genetic study that utilized approximately 140,000 single nucleotide polymor (SNPs) has indicated that there still are genetic differences among mainland Japanese, there is a possibility that the variant distribution in patients with MMD and normal individuals varies between different Japanese regions. Additionally, the majority of variant association studies have used Sanger sequencing, which is labor-intensive, time-consuming, and costly. In this study, we analyzed the frequency of the variant genotype in patients with MMD and normal individuals in Kyushu using pyrosequencing, which is an accurate, cost-effective, and automated method. We found differences in the genotype frequencies in familial patients from Kyushu and normal populations in Tohoku compared with west Japan, which suggested that there were differences in the frequency of the variant among different regions in Japan. The Japan Neurosurgical Society 2017-11 2017-09-21 /pmc/articles/PMC5709714/ /pubmed/28931766 http://dx.doi.org/10.2176/nmc.oa.2017-0036 Text en © 2017 The Japan Neurosurgical Society This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Original Article
TAKAMATSU, Yuichiro
HIGASHIMOTO, Ken
MAEDA, Toshiyuki
KAWASHIMA, Masatou
MATSUO, Muneaki
ABE, Tatsuya
MATSUSHIMA, Toshio
SOEJIMA, Hidenobu
Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan
title Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan
title_full Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan
title_fullStr Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan
title_full_unstemmed Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan
title_short Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan
title_sort differences in the genotype frequency of the rnf213 variant in patients with familial moyamoya disease in kyushu, japan
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709714/
https://www.ncbi.nlm.nih.gov/pubmed/28931766
http://dx.doi.org/10.2176/nmc.oa.2017-0036
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