A genome-wide association study links small-vessel ischemic stroke to autophagy. Issue 1 (December 2017)

• Record Type: Journal Article
• Authors: 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; Chen, Yuan-Tsong; Wu, Jer-Yuarn
• Is Part Of: Scientific reports. Volume 7:Issue 1(2017)
• Page Start: 1
• Page End: 7
• Publication Date: 2017-12
• Subjects: Natural history -- Research -- Periodicals; Biology -- Research -- Periodicals; Physical sciences -- Research -- Periodicals; Earth sciences -- Research -- Periodicals; Environmental sciences -- Research -- Periodicals; 502.85
• DOI: 10.1038/s41598-017-14355-3
• Languages: English
• ISSNs: 2045-2322

Abstract

Abstract 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 inATG7 (encoding Autophagy Related 7), withP values between 2.52 × 10−6 and 3.59 × 10−6, were identified. Imputation analysis also supported the association betweenATG7 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.