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

Tsong Hai Lee, Tai-Ming Ko, Chien Hsiun Chen, Yeu Jhy Chang, Liang Suei Lu, Chien Hung Chang, Kuo Lun Huang, Ting Yu Chang, Jiann Der Lee, Ku Chou Chang, Jen Tsung Yang, Ming Shien Wen, Chao Yung Wang, Ying Ting Chen, Tsai Chuan Chen, Shu Yu Chou, Ming Ta Michael Lee, Yuan Tsong Chen*, Jer Yuarn Wu

*Corresponding author for this work

Research output: Contribution to journalArticle

6 Scopus citations

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 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.

Original languageEnglish
Article number15229
JournalScientific reports
Volume7
Issue number1
DOIs
StatePublished - 1 Dec 2017

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    Lee, T. H., Ko, T-M., Chen, C. H., Chang, Y. J., Lu, L. S., Chang, C. H., Huang, K. L., Chang, T. Y., Lee, J. D., Chang, K. C., Yang, J. T., Wen, M. S., Wang, C. Y., Chen, Y. T., Chen, T. C., Chou, S. Y., Lee, M. T. M., Chen, Y. T., & Wu, J. Y. (2017). A genome-wide association study links small-vessel ischemic stroke to autophagy. Scientific reports, 7(1), [15229]. https://doi.org/10.1038/s41598-017-14355-3