Cargando…

Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population

OBJECTIVES: RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently. The occurrence of this variant was evaluated in patients with non-moyamoya intracranial artery stenosis/occ...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Tong, Guo, Congrong, Liao, Xin, Xia, Jian, Wang, XiaoXiao, Deng, Jing, Yan, Junxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664791/
https://www.ncbi.nlm.nih.gov/pubmed/29165136
http://dx.doi.org/10.1186/s12199-017-0649-0
_version_ 1783275059612221440
author Zhang, Tong
Guo, Congrong
Liao, Xin
Xia, Jian
Wang, XiaoXiao
Deng, Jing
Yan, Junxia
author_facet Zhang, Tong
Guo, Congrong
Liao, Xin
Xia, Jian
Wang, XiaoXiao
Deng, Jing
Yan, Junxia
author_sort Zhang, Tong
collection PubMed
description OBJECTIVES: RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently. The occurrence of this variant was evaluated in patients with non-moyamoya intracranial artery stenosis/occlusion disease in China. METHODS: Two study populations were used in this study. One was recruited from the Second Hospital of Hebei Medical University from April 2015 to May 2016. The other was the archived DNA samples of intracranial artery stenosis/occlusion patients in XiangYa Hospital collected in 2014. The occurrence of RNF213 p.R4810K was investigated in a total of 715 patients with non-moyamoya intracranial artery stenosis/occlusion disease. The carrier rate of RNF213 p.R4810K in 507 normal individuals was used as control. RESULTS: Six of 715 patients (0.84%) with non-moyamoya intracranial artery stenosis/occlusion disease and 2 of the 507 normal controls (0.39%) had RNF213 p.R4810K variant. The carrier rate of RNF213 p.R4810K was higher in non-moyamoya intracranial artery stenosis/occlusion group than that in the normal group. However, no statistically significant association was observed (Odds ratio, 2.14; 95% confidence interval, 0.43–10.63; p = 0.56). CONCLUSIONS: The carrier rate of RNF213 p.R4810K in Chinese non-moyamoya intracranial artery stenosis/occlusion disease patients was significantly lower than that in Korea or Japan. Genetic heterogeneity was highly indicated. Further systematic genetic epidemiology studies with emphasis on Chinese-specific genetic variants and environmental risk factors of intracranial artery stenosis/occlusion disease in larger population are needed.
format Online
Article
Text
id pubmed-5664791
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-56647912017-11-08 Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population Zhang, Tong Guo, Congrong Liao, Xin Xia, Jian Wang, XiaoXiao Deng, Jing Yan, Junxia Environ Health Prev Med Short Communication OBJECTIVES: RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently. The occurrence of this variant was evaluated in patients with non-moyamoya intracranial artery stenosis/occlusion disease in China. METHODS: Two study populations were used in this study. One was recruited from the Second Hospital of Hebei Medical University from April 2015 to May 2016. The other was the archived DNA samples of intracranial artery stenosis/occlusion patients in XiangYa Hospital collected in 2014. The occurrence of RNF213 p.R4810K was investigated in a total of 715 patients with non-moyamoya intracranial artery stenosis/occlusion disease. The carrier rate of RNF213 p.R4810K in 507 normal individuals was used as control. RESULTS: Six of 715 patients (0.84%) with non-moyamoya intracranial artery stenosis/occlusion disease and 2 of the 507 normal controls (0.39%) had RNF213 p.R4810K variant. The carrier rate of RNF213 p.R4810K was higher in non-moyamoya intracranial artery stenosis/occlusion group than that in the normal group. However, no statistically significant association was observed (Odds ratio, 2.14; 95% confidence interval, 0.43–10.63; p = 0.56). CONCLUSIONS: The carrier rate of RNF213 p.R4810K in Chinese non-moyamoya intracranial artery stenosis/occlusion disease patients was significantly lower than that in Korea or Japan. Genetic heterogeneity was highly indicated. Further systematic genetic epidemiology studies with emphasis on Chinese-specific genetic variants and environmental risk factors of intracranial artery stenosis/occlusion disease in larger population are needed. BioMed Central 2017-04-24 2017 /pmc/articles/PMC5664791/ /pubmed/29165136 http://dx.doi.org/10.1186/s12199-017-0649-0 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Communication
Zhang, Tong
Guo, Congrong
Liao, Xin
Xia, Jian
Wang, XiaoXiao
Deng, Jing
Yan, Junxia
Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population
title Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population
title_full Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population
title_fullStr Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population
title_full_unstemmed Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population
title_short Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population
title_sort genetic analysis of rnf213 p.r4810k variant in non-moyamoya intracranial artery stenosis/occlusion disease in a chinese population
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664791/
https://www.ncbi.nlm.nih.gov/pubmed/29165136
http://dx.doi.org/10.1186/s12199-017-0649-0
work_keys_str_mv AT zhangtong geneticanalysisofrnf213pr4810kvariantinnonmoyamoyaintracranialarterystenosisocclusiondiseaseinachinesepopulation
AT guocongrong geneticanalysisofrnf213pr4810kvariantinnonmoyamoyaintracranialarterystenosisocclusiondiseaseinachinesepopulation
AT liaoxin geneticanalysisofrnf213pr4810kvariantinnonmoyamoyaintracranialarterystenosisocclusiondiseaseinachinesepopulation
AT xiajian geneticanalysisofrnf213pr4810kvariantinnonmoyamoyaintracranialarterystenosisocclusiondiseaseinachinesepopulation
AT wangxiaoxiao geneticanalysisofrnf213pr4810kvariantinnonmoyamoyaintracranialarterystenosisocclusiondiseaseinachinesepopulation
AT dengjing geneticanalysisofrnf213pr4810kvariantinnonmoyamoyaintracranialarterystenosisocclusiondiseaseinachinesepopulation
AT yanjunxia geneticanalysisofrnf213pr4810kvariantinnonmoyamoyaintracranialarterystenosisocclusiondiseaseinachinesepopulation