Giuseppe Tosto

Local genetic correlation analysis of Alzheimer's disease and stroke implicates PHLPP1 as a shared locus in individuals of African ancestry

Multi-ancestry Transcriptome-Wide Association Study Reveals Shared and Population-Specific Genetic Effects in Alzheimer's Disease

This study performs a multi-ancestry transcriptome-wide association study (TWAS) to identify shared and population-specific genetic effects in Alzheimer's disease using RNA-seq and genotype data from multiple cohorts.

Alzheimer disease is (sometimes) highly heritable: Drivers of variation in heritability estimates for binary traits, a systematic review

This study reviews heritability estimates for late-onset Alzheimer's disease, showing significant variation across studies and highlighting the importance of population and methodological context.

SAGA (Simplified Association Genomewide Analyses): a user-friendly Pipeline to Democratize Genome-Wide Association Studies

SAGA is a user-friendly, automated pipeline that simplifies GWAS by integrating PLINK, GMMAT, and SAIGE, enabling non-experts to perform reproducible analyses.

A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer's Disease and Related Dementias (ADRD)

The paper develops an imputation panel integrating structural variants for Alzheimer's disease and related dementias, improving genotype imputation and identifying new genetic associations.

ABCA7-dependent Neuropeptide-Y signalling is a resilience mechanism required for synaptic integrity in Alzheimer's disease

This study identifies ABCA7-dependent neuropeptide Y signaling as a resilience mechanism critical for synaptic integrity and its disruption as a risk factor for Alzheimer's disease.

Ethanol exposure model in zebrafish causes phenotypic, behavioral and gene expression changes that mimic Fetal Alcohol Spectrum Disorders in human birth cohorts

Genetic admixture predictors of fetal alcohol spectrum disorders (FASD) in the South African Cape Coloured population

MU-BRAIN: MUltiethnic Brain Rna-seq for Alzheimer INitiative

The paper analyzes bulk RNA-seq data from diverse ethnic groups to identify differentially expressed genes and pathways in Alzheimer's Disease, highlighting cross-ethnic and ethnic-specific findings.

Multi-omics Characterization of Epigenetic and Genetic Risk of Alzheimer Disease in Autopsied Brains from two Ethnic Groups

The paper identifies six genetic loci associated with Alzheimer's disease in Hispanics, showing both genetic and epigenetic risks, with some downstream effects on mRNA expression being ethnicity-specific.

Chromosome 10q24.32 Variants Associate with Brain Arterial Diameters in Diverse Populations: A Genome-Wide Association Study

This study identifies three novel genetic loci associated with brain arterial diameters through a genome-wide association analysis across diverse populations.

A genome-wide association study in Peruvians suggests new risk loci for Alzheimer Disease

This study conducts a GWAS in Peruvians, identifying a novel AD risk locus in NFASC and replicating known loci, highlighting the importance of diverse populations in AD genetics.

A benchmark study on current GWAS models in admixed populations

This study benchmarks GWAS models in admixed populations, finding SAIGE has better type-I error control while Tractor excels in detecting ancestry-specific variants but struggles with small samples.

Ngfr suppresses Lcn2/Slc22a17 signaling, induces neurogenesis and reduces amyloid pathology in the hippocampus of APP/PS1dE9 mouse

The paper shows that Ngfr promotes neurogenesis and reduces amyloid pathology in AD mouse models by suppressing Lcn2/Slc22a17 signaling.

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK, GRB14, and KIAA0825 as novel risk loci for Alzheimer disease: the Alzheimer Disease Genetics Consortium

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

The Caribbean-Hispanic Alzheimer's Brain Transcriptome Reveals Ancestry-Specific Disease Mechanisms

The paper analyzes RNA-seq data from Caribbean-Hispanic Alzheimer's patients and controls to identify ancestry-specific gene expression patterns associated with disease.

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

Rare variants imputation in admixed populations: Comparison across reference panels and bioinformatics tools.

This study compares imputation accuracy for rare and ultra-rare variants in an admixed Caribbean Hispanic population using different reference panels and tools, finding that larger reference panels improve imputation quality.

Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease

The paper uses whole exome sequencing in 20,197 individuals to identify rare variants associated with Alzheimer's disease, finding significant associations with SORL1 loss-of-function variants.

Polygenic Risk Score of Sporadic Late Onset Alzheimer Disease Reveals a Shared Architecture with the Familial and Early Onset Forms

The paper constructs polygenic risk scores for sporadic late-onset Alzheimer's Disease and finds shared genetic architecture with familial and early-onset forms, showing varying odds ratios across cohorts.