ArticleAnnals of neurology2011
Common mitochondrial sequence variants in ischemic stroke.
Article in Annals of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00930280 (Genetic and Environmental Risk Factors for Hemorrhagic Stroke), which is not on this map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic and Environmental Risk Factors for Hemorrhagic Stroke
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Integrative Approaches Identify Genetic Determinants of Levodopa Induced Dyskinesia.Molecular neurobiology · 2025Pooled it
- Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report.BMC neurology · 2023Article
- The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.International journal of molecular sciences · 2020Review
- Genetics of Cerebral Small Vessel Disease.Stroke · 2020Review
- Identification of key genes and upstream regulators in ischemic stroke.Brain and behavior · 2019Article
- Cerebral Small Vessel Disease (CSVD) - Lessons From the Animal Models.Frontiers in physiology · 2019Review
- Detection of mitochondrial DNA with 4977 bp deletion in leukocytes of patients with ischemic stroke.PloS one · 2018Article
- Genetics of Spontaneous Intracerebral Hemorrhage.Stroke · 2017Review
- Significant Association Between Low Mitochondrial DNA Content in Peripheral Blood Leukocytes and Ischemic Stroke.Journal of the American Heart Association · 2017Article
- Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2017Article
- Genetic Risk Prediction of Atrial Fibrillation.Circulation · 2017Article
- Oxidative phosphorylation and lacunar stroke: Genome-wide enrichment analysis of common variants.Neurology · 2016Article
- Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2016Review
- Mitochondrial DNA haplogroups and short-term neurological outcomes of ischemic stroke.Scientific reports · 2015Article
- Genetics of ischemic stroke in young adults.Circulation. Cardiovascular genetics · 2014Review
- Clinical neurogenetics: stroke.Neurologic clinics · 2013Review
- Article
- Human mitochondrial DNA: roles of inherited and somatic mutations.Nature reviews. Genetics · 2012Review
- Genetics of age-related white matter lesions from linkage to genome wide association studies.Journal of the neurological sciences · 2012Review
- Article
Corrections and comments
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Authors and funding
25 authors.
Funding
Abstract
objectiveRare mitochondrial mutations cause neurologic disease, including ischemic stroke and MRI white matter changes. We investigated whether common mitochondrial genetic variants influence risk of sporadic ischemic stroke and, in patients with stroke, the volume of white matter hyperintensity (WMHV).
methodsIn this multicenter, mitochondrial genome-wide association study (GWAS), 2284 ischemic stroke cases and 1728 controls from the International Stroke Genetics Consortium were genotyped for 64 mitochondrial single nucleotide polymorphisms (SNPs). Imputation resulted in 144 SNPs, which were tested in each cohort and in meta-analysis for ischemic stroke association. A genetic score of all mitochondrial variants was also tested in association with ischemic stroke.
resultsNo individual SNP reached adjusted significance in meta-analysis. A genetic score comprised of the summation of contributions from individual variants across the mitochondrial genome showed association with ischemic stroke in meta-analysis (odds ratio [OR] = 1.13, p < 0.0001) with minimal heterogeneity (I(2) = 0.00). This ischemic stroke score was robust to permutation, and was also associated with WMHV in 792 nested case individuals with ischemic stroke (p = 0.037).
interpretationIn this mitochondrial GWAS of ischemic stroke, a genetic score comprised of the sum of all common variants in the mitochondrial genome showed association with ischemic stroke. In an independent analysis of a related trait, this same score correlated with WMHV in stroke cases. Despite this aggregate association, no individual variant reached significance. Substantially larger studies will be required to identify precise sequence variants influencing cerebrovascular disease.
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Registered trials
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