Manav Kapoor
A5017040265- Genetic Associations and Epidemiology
- Alcohol Consumption and Health Effects
- Substance Abuse Treatment and Outcomes
- Alzheimer's disease research and treatments
- Epigenetics and DNA Methylation
- Neuroinflammation and Neurodegeneration Mechanisms
- Bioinformatics and Genomic Networks
- Peroxisome Proliferator-Activated Receptors
- Nutrition, Genetics, and Disease
- Smoking Behavior and Cessation
- Genomics and Rare Diseases
- Cannabis and Cannabinoid Research
- Neurotransmitter Receptor Influence on Behavior
- Nuclear Receptors and Signaling
- Metabolomics and Mass Spectrometry Studies
- Nicotinic Acetylcholine Receptors Study
- Genetic Mapping and Diversity in Plants and Animals
- Tryptophan and brain disorders
- Cancer-related molecular mechanisms research
- Dementia and Cognitive Impairment Research
- Cerebrovascular and genetic disorders
- Adipose Tissue and Metabolism
- COVID-19 Clinical Research Studies
- Cell Adhesion Molecules Research
- Immune Cell Function and Interaction
Regeneron (United States)
2022-2025
Icahn School of Medicine at Mount Sinai
2015-2025
Allen Institute for Brain Science
2017-2021
Washington University in St. Louis
2012-2017
Birla Institute of Technology and Science, Pilani
2008-2009
Guru Nanak Dev University
2004-2009
Genome-wide association studies (GWAS) have identified more than 40 loci associated with Alzheimer's disease (AD), but the causal variants, regulatory elements, genes and pathways remain largely unknown, impeding a mechanistic understanding of AD pathogenesis. Previously, we showed that risk alleles are enriched in myeloid-specific epigenomic annotations. Here, show they specifically active enhancers monocytes, macrophages microglia. We integrated GWAS myeloid transcriptomic datasets using...
Abstract Rare coding variants that substantially affect function provide insights into the biology of a gene 1–3 . However, ascertaining frequency such requires large sample sizes 4–8 Here we present catalogue human protein-coding variation, derived from exome sequencing 983,578 individuals across diverse populations. In total, 23% Regeneron Genetics Center Million Exome (RGC-ME) data come African, East Asian, Indigenous American, Middle Eastern and South Asian ancestry. The includes more...
Abstract Objective To determine whether the extent of overlap genetic architecture among sporadic late‐onset Alzheimer's Disease (sLOAD), familial AD (fLOAD), early‐onset (sEOAD), and autosomal dominant (eADAD). Methods Polygenic risk scores (PRSs) were constructed using previously identified 21 genome‐wide significant loci for LOAD risk. Results We found that there is an in sEOAD, fLOAD, sLOAD. The highest association PRS (odds ratio [OR] = 2.27; P 1.29 × 10 −7 ) was observed followed by...
Abstract Alcoholism remains a prevalent health concern throughout the world. Previous studies have identified transcriptomic patterns in brain associated with alcohol dependence both humans and animal models. But none of these systematically investigated expression within unique cell types present brain. We utilized single nucleus RNA sequencing (snRNA-seq) to examine transcriptomes over 16 000 nuclei isolated from prefrontal cortex alcoholic control individuals. Each was assigned one seven...
Alcohol exposure triggers changes in gene expression and biological pathways human brain. We explored alterations the Pre-Frontal Cortex (PFC) of 65 alcoholics 73 controls European descent, identified 129 genes that showed altered (FDR < 0.05) subjects with alcohol dependence. Differentially expressed were enriched for related to interferon signaling Growth Arrest DNA Damage-inducible 45 (GADD45) signaling. A coexpression module (thistle2) by weighted co-expression network analysis (WGCNA)...
Human immunodeficiency virus (HIV) infection depletes CD4 T-cells, and long-term persistence of latent prevents full clearance HIV even in the presence effective antiretroviral therapy (ART), Here we present HIV-1-induced lineage tracing (HILT) system, a model that irreversibly marks infected cells within humanized mouse model, which detects rare latently cells. Immunodeficient mice transplanted with genetically modified hematopoietic stem develop human immune T-cells contain genetic switch...
Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA) is a cell surface inhibitory receptor that recognizes specific O-glycosylated proteins and expressed on various innate immune types including microglia. We show here common missense variant (G78R, rs1859788) of PILRA the likely causal allele for confirmed Alzheimer's disease risk locus at 7q21 (rs1476679). The G78R alters interaction residues essential sialic acid engagement, resulting in >50% reduced binding several ligands novel...
Genome-wide association studies (GWAS) of alcohol dependence (AD) have reliably identified variation within metabolizing genes (eg, ADH1B) but inconsistently located other signals, which may be partially attributable to symptom heterogeneity underlying the disorder. We conducted GWAS DSM-IV AD (primary analysis), criterion count (secondary and individual criteria (tertiary analysis) among 7418 (1121 families) European American (EA) individuals from Collaborative Study on Genetics Alcoholism...
Identification of causal variants and genes underlying genome-wide association study (GWAS) loci is essential to understand the biology alcohol use disorder (AUD) drinks per week (DPW). Multi-omics integration approaches have shown potential for fine mapping complex obtain biological insights disease mechanisms. In this study, we multi-omics approaches, fine-map AUD DPW associations at single SNP resolution demonstrate that rs56030824 on chromosome 11 significantly reduces SPI1 mRNA...
ABSTRACT Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in population. Identifying and ascertaining frequency such requires very large sample sizes. Here, we present largest catalog human protein-coding variation to date, derived from exome sequencing 985,830 individuals diverse ancestry serve as rich resource for studying coding variants. Individuals African, Admixed American, East Asian, Middle Eastern, South...
Alcohol and drug use disorders are individually heritable (50%). Twin studies indicate that alcohol substance share common genetic influences, therefore may represent a more form of addiction thus be powerful for studies. This study utilized data from 2322 subjects 118 European-American families in the Collaborative Study on Genetics Alcoholism sample to conduct genome-wide association analysis binary continuous index general dependence liability. The phenotype (ANYDEP) was based meeting...