ArticleNeurology2016
Oxidative phosphorylation and lacunar stroke: Genome-wide enrichment analysis of common variants.
Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- Advances in Understanding the Pathophysiology of Lacunar Stroke: A Review.JAMA neurology · 2018Review
- A population neuroscience approach to the study of cerebral small vessel disease in midlife and late life: an invited review.American journal of physiology. Heart and circulatory physiology · 2018Review
- Associations of Oxidative Phosphorylation-Related Genes With Deep Intracerebral Hemorrhage in Taiwan.Journal of experimental neuroscience · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveWe investigated whether oxidative phosphorylation (OXPHOS) abnormalities were associated with lacunar stroke, hypothesizing that these would be more strongly associated in patients with multiple lacunar infarcts and leukoaraiosis (LA).
methodsIn 1,012 MRI-confirmed lacunar stroke cases and 964 age-matched controls recruited from general practice surgeries, we investigated associations between common genetic variants within the OXPHOS pathway and lacunar stroke using a permutation-based enrichment approach. Cases were phenotyped using MRI into those with multiple infarcts or LA (MLI/LA) and those with isolated lacunar infarcts (ILI) based on the number of subcortical infarcts and degree of LA, using the Fazekas grading. Using gene-level association statistics, we tested for enrichment of genes in the OXPHOS pathway with all lacunar stroke and the 2 subtypes.
resultsThere was a specific association with strong evidence of enrichment in the top 1% of genes in the MLI/LA (subtype p = 0.0017) but not in the ILI subtype (p = 1). Genes in the top percentile for the all lacunar stroke analysis were not significantly enriched (p = 0.07).
conclusionsOur results implicate the OXPHOS pathway in the pathogenesis of lacunar stroke, and show the association is specific to patients with the MLI/LA subtype. They show that MRI-based subtyping of lacunar stroke can provide insights into disease pathophysiology, and imply that different radiologic subtypes of lacunar stroke subtypes have distinct underlying pathophysiologic processes.
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