Publications by authors named "Brady Gaynor"

Article Synopsis
  • The study investigates the role of SUR1, encoded by the ABCC8 gene, in ischemic strokes and its association with cerebral edema and functional outcomes.
  • Researchers analyzed data from 2,205 patients with acute non-lacunar ischemic strokes, focusing on four specific genetic variants (SNPs) of the ABCC8 gene.
  • The findings revealed no significant link between these SNPs and stroke infarct size or 3-month functional outcomes, suggesting the need for more thorough investigations with improved imaging and outcome assessments.
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Objective: Although stroke incidence is decreasing in older ages, it is increasing in young adults. While these divergent trends in stroke incidence are at least partially attributable to diverging prevalence trends in stoke risk factors, age-dependent differences in the impact of stroke risk factors on stroke may also contribute. To address this issue, we utilized Mendelian Randomization (MR) to assess differences in the association of stroke risk factors between early onset ischemic stroke (EOS) and late onset ischemic stroke (LOS).

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Background: Oral contraceptives (OCs) are generally safe but vascular risk factors increase OC-associated ischemic stroke risk. We performed a case-control study to evaluate whether a genomic risk score for ischemic stroke modifies OC-associated ischemic stroke risk.

Methods: The Genetics of Early-Onset Stroke study includes 332 premenopausal women (136 arterial ischemic stroke cases and 196 controls) with data on estrogen-containing OC use within 30 days before the index event (for cases) or interview (for controls).

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Most methods to detect copy number variation (CNV) have high false positive rates, especially for small CNVs and in real-life samples from clinical studies. In this study, we explored a novel scatterplot-based method to detect CNVs in microarray samples. Illumina SNP microarray data from 13,254 individuals were analyzed with scatterplots and by PennCNV.

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Recent genome wide association studies have identified 89 common genetic variants robustly associated with ischemic stroke and primarily located in non-coding regions. To evaluate the contribution of coding variants, which are mostly rare, we performed an exome array analysis on 106,101 SNPs for 9721 ischemic stroke cases from the SiGN Consortium, and 12,345 subjects with no history of stroke from the Health Retirement Study and SiGN consortium. We identified 15 coding variants significantly associated with all ischemic stroke at array-wide threshold (i.

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Article Synopsis
  • The study investigates genetic variants linked to early-onset ischemic stroke (EOS) in individuals aged 18-59, contrasting with previous research focused on late-onset stroke (LOS).
  • Researchers conducted a meta-analysis involving 16,730 EOS cases and 599,237 controls to identify significant genetic associations and compared results between EOS and LOS.
  • Findings include two genetic variants associated with blood subgroups that show a stronger connection to EOS than LOS, indicating that genetic factors promoting blood clotting are particularly influential in early-onset cases.
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Article Synopsis
  • Platelet aggregation at sites of vascular injury is a key factor in causing heart attacks and strokes.
  • Researchers identified 16 genetic loci related to platelet aggregation through whole genome sequencing of nearly 3,900 participants.
  • Notable findings include the RGS18 locus associated with G-protein signaling in platelets, and the SVEP1 gene linked to coronary artery disease, highlighting the role of genetics in cardiovascular disease risk and the importance of rare variants in understanding complex health conditions.
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Article Synopsis
  • Sudden cardiac death (SCD) without an explanation is linked to genetic factors, but the relationship between specific genetic variants and unexplained SCD in White and African American adults has not been thoroughly studied before.
  • A study involving 683 participants (413 with sequenced DNA) examined the frequency of pathogenic or likely pathogenic (P/LP) variants in genes related to inherited cardiomyopathies and arrhythmia syndromes among those who died from unexplained SCD.
  • The results revealed that 18.4% of participants carried P/LP variants; predominantly, these were linked to hypertrophic cardiomyopathy, dilated cardiomyopathy, and long QT syndrome, highlighting a significant connection between genetic risk factors and unexpl
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Background And Purpose: The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this knowledge gap.

Methods: Over 24,500 well-phenotyped IS cases, including IS subtypes, and over 43,500 controls have been identified, all with readily available genotyping on GWAS and exome arrays, with case measures of stroke outcome.

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Background And Purpose: The genetic contribution to ischemic stroke may include rare- or low-frequency variants of high-penetrance and large-effect sizes. Analyses focusing on early-onset disease, an extreme-phenotype, and on the exome, the protein-coding portion of genes, may increase the likelihood of identifying such rare functional variants. To evaluate this hypothesis, we implemented a 2-stage discovery and replication design, and then addressed whether the identified variants also associated with older-onset disease.

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Background And Purpose: Polymorphisms in coagulation genes have been associated with early-onset ischemic stroke. Here we pursue an a priori hypothesis that genetic variation in the endothelial-based receptors of the thrombomodulin-protein C system (THBD and PROCR) may similarly be associated with early-onset ischemic stroke. We explored this hypothesis utilizing a multi-stage design of discovery and replication.

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Background: The use of swine in biomedical research has increased dramatically in the last decade. Diverse genomic- and proteomic databases have been developed to facilitate research using human and rodent models. Current porcine gene databases, however, lack the robust annotation to study pig models that are relevant to human studies and for comparative evaluation with rodent models.

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causes stubborn disease in spp. and diseases in other plants. Here, we report the nucleotide sequence of the 1,599,709-bp circular chromosome and two plasmids of strain R8-A2 This information will facilitate analyses to understand spiroplasmal pathogenicity and evolutionary adaptations to lifestyles in plants and arthropod hosts.

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Spiroplasma turonicum was isolated from a Haematopota sp. fly in France. We report the nucleotide sequence of the circular chromosome of strain Tab4c(T).

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Spiroplasma kunkelii causes corn stunt disease of Zea mays L. in the Americas. Here, we report the nucleotide sequence of the 1,463,926-bp circular chromosome and four plasmids of strain CR2-3x.

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