Publications by authors named "E M Wijsman"
Introduction: We investigated whether the cerebellum develops neuropathology that correlates with well-accepted Alzheimer's disease (AD) neuropathological markers and cognitive status.
Methods: We studied cerebellar cytoarchitecture in a cohort (N = 30) of brain donors. In a larger cohort (N = 605), we queried whether the weight of the contents of the posterior fossa (PF), which contains primarily cerebellum, correlated with dementia status.
Article Synopsis
- Alzheimer's disease (AD) is a common hereditary disorder affecting the elderly, and this study explored its genetic associations using whole genome sequencing data from 13,371 individuals of various ancestries.
- The researchers found significant genetic variants related to AD, including those at APOE, BIN1, and a specific haplotype on chromosome 14 (PSEN1) in Hispanic populations, alongside variants in LINC00320 in Black individuals.
- The study highlights the importance of both pooled and subgroup-specific analyses in understanding the complex genetic architecture of AD, revealing rare non-coding variants in the promoter of TOMM40 unrelated to APOE.
Article Synopsis
- - The study investigates the genetic basis of Essential Hypertension (EH) in African-derived individuals from isolated quilombo populations in Brazil, focusing on 431 participants and using extensive genetic analysis techniques like SNP genotyping and local ancestry analysis.
- - Linkage analysis revealed 22 regions of interest with significant gene associations, while fine-mapping identified 60 candidate genes related to EH, unveiling new genetic insights that could improve understanding and treatment of hypertension.
- - The findings suggest potential targets for future research on hypertension, aiming to enhance personalized medical approaches and public health efforts for underrepresented African-derived populations, despite some limitations like restricted SNP coverage and reliance on self-reported data.
Article Synopsis
- Genome-wide association studies (GWAS) have pinpointed regions of the genome linked to Alzheimer's disease (AD), but they haven't revealed specific causal genes or variations within those regions.
- By analyzing whole genome sequencing (WGS) data, researchers aimed to identify rare genetic variations that may be responsible for AD traits.
- The study found 17 significant variants associated with AD, implicating several genes, including OARD1/NFYA/TREML1 and KAT8, highlighting the effectiveness of using WGS to clarify GWAS findings.
Background: Prior studies using the ADSP data examined variants within presenilin-2 (PSEN2), presenilin-1 (PSEN1), and amyloid precursor protein (APP) genes. However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in a newer release of the Alzheimer's Disease Sequencing Project (ADSP).
Objective: To characterize previously-reported clinically-relevant variants and DM variants in PSEN2, PSEN1, APP within the participants from the ADSP.