Background: Brain arterial diameters are novel imaging biomarkers of cerebrovascular disease, cognitive decline and dementia. Traditional vascular risk factors have been associated with brain arterial diameters but whether there may be genetic determinants of brain arterial diameters is unknown.
Results: We studied 4150 participants from six geographically diverse population-based cohorts (40% European, 14% African, 22% Hispanic, 24% Asian ancestries). We measured brain arterial diameters for 13 segments and averaged them to obtain a global measure of brain arterial diameters as well as the posterior and anterior circulations. A genome-wide association study (GWAS) revealed 14 variants at one locus associated with global brain arterial diameter at genome-wide significance (P<5×10) (top SNP, rs7921574; β =0.06, P=1.54×10). This locus mapped to an intron of . A trans-ancestry GWAS meta-analysis identified two more loci at (rs10748839; P=2.54×10) and at (rs10786721; P=4.97×10), associated with global brain arterial diameter. In addition, two SNPs co-localized with expression of (rs7897654, β=0.12, P=6.17×10) and (rs10786719, β =-0.17, P=6.60×10) in brain tissue. For the posterior brain arterial diameter, two variants at one locus mapped to an intron of were identified (top SNP, rs35994878; β =0.11, P=2.94×10). For the anterior brain arterial diameter, one locus at was identified in trans-ancestry genome-wide association analysis (rs34217249; P=3.11×10).
Conclusion: Our study reveals three novel risk loci (CNNM2, NT5C2 and AS3MT) associated with brain arterial diameters. Our finding may elucidate the mechanisms by which brain arterial diameters influence the risk of stroke and dementia.
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http://dx.doi.org/10.1101/2023.01.31.23285251 | DOI Listing |
Acta Neurochir (Wien)
January 2025
Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India.
Background: Reaching parenchymal segments of the lateral lenticulostriate artery (LSA) perforators, which represent the medial resection limit in insular gliomas (IG), remains a challenge. The currently described methods are indirect and sometimes, imprecise.
Methods: We report an antegrade direct skeletonization technique to identify these tiny arteries at the medial end of IGs with an illustrative case of grade 2 astrocytoma.
Int J Mol Sci
January 2025
Department of Neurosurgery, University of Maryland School of Medicine, Baltimore, MD 20201, USA.
Brain ischemia causes disruption in cerebral blood flow and blood-brain barrier integrity, which are normally maintained by astrocyte endfeet. Emerging evidence points to dysregulation of the astrocyte translatome during ischemia, but its effects on the endfoot translatome are unknown. In this study, we aimed to investigate the early effects of ischemia on the astrocyte endfoot translatome in a rodent cerebral ischemia and reperfusion model of stroke.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of Computer Science, Tunghai University, Taichung 407224, Taiwan.
Background And Objective: Cardiovascular disease (CVD), one of the chronic non-communicable diseases (NCDs), is defined as a cardiac and vascular disorder that includes coronary heart disease, heart failure, peripheral arterial disease, cerebrovascular disease (stroke), congenital heart disease, rheumatic heart disease, and elevated blood pressure (hypertension). Having CVD increases the mortality rate. Emotional stress, an indirect indicator associated with CVD, can often manifest through facial expressions.
View Article and Find Full Text PDFSci Data
January 2025
Hubei Clinical Research Center of Central Nervous System Repair and Functional Reconstruction, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, 442000, China.
Ischemic stroke constitutes a multifaceted neurological affliction that spans various cellular types. Lack of dynamic chromatin accessibility data after stroke is one of the obstacles to understanding this process. To gain insights into the variations in transcriptional regulation among various cell types subsequent to a stroke, we employed single-nucleus ATAC-seq to curate a chromatin accessibility compendium from the cerebral cortex of mice subjected to middle cerebral artery occlusion/reperfusion (MCAO/R).
View Article and Find Full Text PDFAnn Indian Acad Neurol
January 2025
Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
Background And Objectives: Cryptogenic strokes account for 20%-25% of all ischemic strokes. Although atrial cardiopathy markers are more prevalent in the cryptogenic embolic stroke of undetermined source (ESUS) subgroup than in the nonembolic stroke subgroup, the utility of individual parameters in predicting cardioembolic sources needs to be studied further. We studied the clinical, imaging, and atrial cardiopathy markers in three ischemic stroke subtypes - large artery atherosclerosis (LAA), cardioembolism (CE), and cryptogenic ESUS - and their role in predicting the source of CE.
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