Maryam Shoai
A5071383564- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Alzheimer's disease research and treatments
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Dementia and Cognitive Impairment Research
- Nutrition, Genetics, and Disease
- Amyotrophic Lateral Sclerosis Research
- Lysosomal Storage Disorders Research
- Health, Environment, Cognitive Aging
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Genomics and Rare Diseases
- Studies on Chitinases and Chitosanases
- Mitochondrial Function and Pathology
- Gene expression and cancer classification
- Tryptophan and brain disorders
- Folate and B Vitamins Research
- SARS-CoV-2 and COVID-19 Research
- Eosinophilic Esophagitis
- HIV Research and Treatment
UK Dementia Research Institute
2019-2024
University College London
2014-2024
Research Network (United States)
2022-2024
National Hospital for Neurology and Neurosurgery
2013-2024
Neurosciences Institute
2018
Inserm
2015
Bicêtre Hospital
2015
Assistance Publique – Hôpitaux de Paris
2015
Royal London Hospital
2015
We estimate the maximum prediction accuracy for risk of Alzheimer's disease based on prevalence and heritability liability. demonstrate that recently reported AUC values predicting using polygenic scores reach about 90% estimated can be achieved by predictors genetic genomic profiles.
Background Heterozygous loss‐of‐function mutations in the acid beta‐glucocerebrosidase ( GBA1 ) gene, responsible for recessive lysosomal storage disorder, Gaucher's disease (GD), are strongest known risk factor Parkinson's (PD). Our aim was to assess contribution of a series early‐onset PD. Methods One hundred and eighty‐five PD patients (with an onset age ≤50) 283 age‐matched controls were screened by Sanger sequencing. Results We show that frequency is much higher this patient than...
Abstract Background Therapeutic control of HIV replication reduces the size viral reservoir, particularly among central memory CD4+ T cells, and this effect might be accentuated by early treatment. Methods We examined ART initiated at time primary infection (early ART), lasting 2 6 years in 11 10 patients, respectively, on reservoir peripheral resting sorted into naive (TN), (TCM), transitional (TTM) effector (TEM) comparison with post-treatment controllers (PTCs). Results Between baseline...
Abstract Genome-wide association studies of late-onset Alzheimer’s disease risk have previously identified genes primarily expressed in microglia that form a transcriptional network. Using transgenic mouse models amyloid deposition, we showed many the orthologues these are co-expressed and associated with pathology. In this new study, generate an improved RNA-seq-derived network is amyloid-responsive statistically compare gene-level variation previous human genome-wide to predict at least...
Alzheimer disease (AD) is the most common form of dementia and responsible for a huge growing health care burden in developed developing world. The polygenic risk score (PRS) approach has shown 75 to 84% prediction accuracy identifying individuals with AD risk.In this study, we tested AD, mild cognitive impairment (MCI), amyloid deposition risks PRS, including excluding APOE genotypes large publicly available dataset extensive phenotypic data, Alzheimer's Disease Neuroimaging Initiative...
Abstract Recently, we reported oligoadenylate synthetase 1 (OAS1) contributed to the risk of Alzheimer’s disease, by its enrichment in transcriptional networks expressed microglia. However, function OAS1 within microglia was not known. Using genotyping from 1313 individuals with sporadic disease and 1234 control individuals, confirm variant, rs1131454, is associated increased for disease. The same locus has been recently severe coronavirus 2019 (COVID-19) outcomes, linking both diseases....
Introduction Both late-onset Alzheimer’s disease (AD) and ageing have a strong genetic component. In each case, many associated variants been discovered, but how much missing heritability remains to be discovered is debated. Variability in the estimation of SNP-based could explain differences reported heritability. Methods We compute five large independent cohorts (N = 7,396, 1,566, 803, 12,528 3,963) determine whether consensus for AD estimate can reached. These vary by sample size, age...
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the process, with rare and common variation implicated. We used next generation sequencing repeat sizing comprehensively assay genetic in panel known amyotrophic 1126 patient samples 613 controls. 10% patients were predicted carry pathological expansion C9orf72 gene. found an increased burden variants within untranslated regions disease-causing genes,...
Abstract Genome-wide association studies have identified dozens of loci that alter the risk to develop Alzheimer’s disease. However, with exception APOE-ε4 allele, most variants bear only little individual effect and have, therefore, limited diagnostic prognostic value. Polygenic scores aim collate disease distributed across genome in a single score. Recent works demonstrated polygenic designed for are predictive clinical diagnosis, pathology confirmed diagnosis changes imaging biomarkers....
Abstract The heritability of Alzheimer’s disease estimated from twin studies is greater than the derived genome-based studies, for reasons that remain unclear. We apply both approaches to same sample, considering polygenic risk scores and models, provide insight into role measured genetic variants quantify uncaptured risk. A population-based association study was conducted between 1986 2016 first incorporate biometrical models disease. sample included 1586 twins drawn Swedish Twin Registry...
BackgroundPick's disease is a rare and predominantly sporadic form of frontotemporal dementia that classified as primary tauopathy. Pick's pathologically defined by the presence in frontal temporal lobes Pick bodies, composed hyperphosphorylated, three-repeat tau protein, encoded MAPT gene. has two distinct haplotypes, H1 H2; haplotype major genetic risk factor for four-repeat tauopathies (eg, progressive supranuclear palsy corticobasal degeneration), H2 protective these disorders. The aim...
The We and others have previously shown that polygenic risk score analysis (PRS) has considerable predictive utility for identifying those at high of developing Alzheimer’s disease (AD) with an area under the curve (AUC) >0.8. However, by far greatest determinant this is apolipoprotein E locus E4 allele alone giving AUC ~0.68 inclusion protective E2 increasing to ~0.69 in a clinical cohort. An important question determine how good PRS predicting who do not carry (E3 homozygotes, E3E2...
The basis for clinical variation related to underlying progressive supranuclear palsy (PSP) pathology is unknown. We performed a genome-wide association study (GWAS) identify genetic determinants of PSP phenotype.Two independent pathological and clinically diagnosed cohorts were genotyped phenotyped create Richardson syndrome (RS) non-RS groups. carried out separate logistic regression GWASs compare RS groups then combined datasets carry whole cohort analysis (RS = 367, 130). validated our...
Abstract Genetic correlation ( $$r_g$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:msub><mml:mrow><mml:mi>r</mml:mi></mml:mrow><mml:mrow><mml:mi>g</mml:mi></mml:mrow></mml:msub></mml:math> ) between traits can offer valuable insight into underlying shared biological mechanisms. Neurodegenerative diseases overlap neuropathologically and often manifest comorbid neuropsychiatric symptoms. However, global analyses show minimal among neurodegenerative diseases. Importantly,...
Abstract Polygenic risk scores (PRS) in Parkinson’s disease (PD) are associated with risk. Recently, pathway-specific PRS have been created to take advantage of annotations inking variants biological pathways or cell types. Here, we investigated 8 regions open chromatin using PRS: alpha-synuclein pathway, adaptive immunity, innate lysosomal pathway1, endocytic membrane-trafficking mitochondrial microglial single nucleotide polymorphisms (SNPs), and monocyte SNPs. We analysed 7,402 PD...