Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
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 |
_version_ | 1783282831151071232 |
---|---|
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. |
format | Online Article Text |
id | pubmed-5709714 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | The Japan Neurosurgical Society |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT takamatsuyuichiro differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan AT higashimotoken differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan AT maedatoshiyuki differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan AT kawashimamasatou differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan AT matsuomuneaki differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan AT abetatsuya differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan AT matsushimatoshio differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan AT soejimahidenobu differencesinthegenotypefrequencyofthernf213variantinpatientswithfamilialmoyamoyadiseaseinkyushujapan |