A genome-wide association study links small-vessel ischemic stroke to autophagy

Genome-wide association studies (GWAS) can serve as strong evidence in correlating biological pathways with human diseases. Although ischemic stroke has been found to be associated with many biological pathways, the genetic mechanism of ischemic stroke is still unclear. Here, we performed GWAS for a...

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Autores principales: Lee, Tsong-Hai, Ko, Tai-Ming, Chen, Chien-Hsiun, Chang, Yeu-Jhy, Lu, Liang-Suei, Chang, Chien-Hung, Huang, Kuo-Lun, Chang, Ting-Yu, Lee, Jiann-Der, Chang, Ku-Chou, Yang, Jen-Tsung, Wen, Ming-Shien, Wang, Chao-Yung, Chen, Ying-Ting, Chen, Tsai-Chuan, Chou, Shu-Yu, Lee, Ming-Ta Michael, Chen, Yuan-Tsong, Wu, Jer-Yuarn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680343/
https://www.ncbi.nlm.nih.gov/pubmed/29123153
http://dx.doi.org/10.1038/s41598-017-14355-3
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author Lee, Tsong-Hai
Ko, Tai-Ming
Chen, Chien-Hsiun
Chang, Yeu-Jhy
Lu, Liang-Suei
Chang, Chien-Hung
Huang, Kuo-Lun
Chang, Ting-Yu
Lee, Jiann-Der
Chang, Ku-Chou
Yang, Jen-Tsung
Wen, Ming-Shien
Wang, Chao-Yung
Chen, Ying-Ting
Chen, Tsai-Chuan
Chou, Shu-Yu
Lee, Ming-Ta Michael
Chen, Yuan-Tsong
Wu, Jer-Yuarn
author_facet Lee, Tsong-Hai
Ko, Tai-Ming
Chen, Chien-Hsiun
Chang, Yeu-Jhy
Lu, Liang-Suei
Chang, Chien-Hung
Huang, Kuo-Lun
Chang, Ting-Yu
Lee, Jiann-Der
Chang, Ku-Chou
Yang, Jen-Tsung
Wen, Ming-Shien
Wang, Chao-Yung
Chen, Ying-Ting
Chen, Tsai-Chuan
Chou, Shu-Yu
Lee, Ming-Ta Michael
Chen, Yuan-Tsong
Wu, Jer-Yuarn
author_sort Lee, Tsong-Hai
collection PubMed
description Genome-wide association studies (GWAS) can serve as strong evidence in correlating biological pathways with human diseases. Although ischemic stroke has been found to be associated with many biological pathways, the genetic mechanism of ischemic stroke is still unclear. Here, we performed GWAS for a major subtype of stroke—small-vessel occlusion (SVO)—to identify potential genetic factors contributing to ischemic stroke. GWAS were conducted on 342 individuals with SVO stroke and 1,731 controls from a Han Chinese population residing in Taiwan. The study was replicated in an independent Han Chinese population comprising an additional 188 SVO stroke cases and 1,265 controls. Three SNPs (rs2594966, rs2594973, rs4684776) clustered at 3p25.3 in ATG7 (encoding Autophagy Related 7), with P values between 2.52 × 10(−6) and 3.59 × 10(−6), were identified. Imputation analysis also supported the association between ATG7 and SVO stroke. To our knowledge, this is the first GWAS to link stroke and autophagy. ATG7, which has been implicated in autophagy, could provide novel insights into the genetic basis of ischemic stroke.
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spelling pubmed-56803432017-11-17 A genome-wide association study links small-vessel ischemic stroke to autophagy Lee, Tsong-Hai Ko, Tai-Ming Chen, Chien-Hsiun Chang, Yeu-Jhy Lu, Liang-Suei Chang, Chien-Hung Huang, Kuo-Lun Chang, Ting-Yu Lee, Jiann-Der Chang, Ku-Chou Yang, Jen-Tsung Wen, Ming-Shien Wang, Chao-Yung Chen, Ying-Ting Chen, Tsai-Chuan Chou, Shu-Yu Lee, Ming-Ta Michael Chen, Yuan-Tsong Wu, Jer-Yuarn Sci Rep Article Genome-wide association studies (GWAS) can serve as strong evidence in correlating biological pathways with human diseases. Although ischemic stroke has been found to be associated with many biological pathways, the genetic mechanism of ischemic stroke is still unclear. Here, we performed GWAS for a major subtype of stroke—small-vessel occlusion (SVO)—to identify potential genetic factors contributing to ischemic stroke. GWAS were conducted on 342 individuals with SVO stroke and 1,731 controls from a Han Chinese population residing in Taiwan. The study was replicated in an independent Han Chinese population comprising an additional 188 SVO stroke cases and 1,265 controls. Three SNPs (rs2594966, rs2594973, rs4684776) clustered at 3p25.3 in ATG7 (encoding Autophagy Related 7), with P values between 2.52 × 10(−6) and 3.59 × 10(−6), were identified. Imputation analysis also supported the association between ATG7 and SVO stroke. To our knowledge, this is the first GWAS to link stroke and autophagy. ATG7, which has been implicated in autophagy, could provide novel insights into the genetic basis of ischemic stroke. Nature Publishing Group UK 2017-11-09 /pmc/articles/PMC5680343/ /pubmed/29123153 http://dx.doi.org/10.1038/s41598-017-14355-3 Text en © The Author(s) 2017 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Lee, Tsong-Hai
Ko, Tai-Ming
Chen, Chien-Hsiun
Chang, Yeu-Jhy
Lu, Liang-Suei
Chang, Chien-Hung
Huang, Kuo-Lun
Chang, Ting-Yu
Lee, Jiann-Der
Chang, Ku-Chou
Yang, Jen-Tsung
Wen, Ming-Shien
Wang, Chao-Yung
Chen, Ying-Ting
Chen, Tsai-Chuan
Chou, Shu-Yu
Lee, Ming-Ta Michael
Chen, Yuan-Tsong
Wu, Jer-Yuarn
A genome-wide association study links small-vessel ischemic stroke to autophagy
title A genome-wide association study links small-vessel ischemic stroke to autophagy
title_full A genome-wide association study links small-vessel ischemic stroke to autophagy
title_fullStr A genome-wide association study links small-vessel ischemic stroke to autophagy
title_full_unstemmed A genome-wide association study links small-vessel ischemic stroke to autophagy
title_short A genome-wide association study links small-vessel ischemic stroke to autophagy
title_sort genome-wide association study links small-vessel ischemic stroke to autophagy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680343/
https://www.ncbi.nlm.nih.gov/pubmed/29123153
http://dx.doi.org/10.1038/s41598-017-14355-3
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