Association Study Between Genetic Variation in Whole Mitochondrial Genome and Ischemic Stroke

Mitochondrial DNA (mtDNA) affects the mitochondrial function, which is potentially related to susceptibility to ischemic stroke (IS). However, study on IS genetics by whole mitochondrial genome sequencing has not been extensively explored. Therefore, a two-stage study was designed to explore the relationship between the whole mitochondrial genome variants and IS. In the first stage, whole mitochondrial genomes of 52 IS patients and 55 controls were sequenced by next-generation sequencing. Fifty-three mtDNA mutation sites which may be related to the pathogenesis of IS were discovered. Nine unreported mtDNA variation sites were found for the first time. In the second larger Chinese cohort, we confirmed that m.T195C and m.T12338C in the mitochondrial D-loop region were the protective factors of IS, especially m.T195C and m.C311T in the LAA subtype. In conclusion, our study provided population genetic information and a reference for IS-relevant research, with wide applications in diagnosis, therapeutic treatments and prediction of IS.