Matthew J. Huentelman
A5037628555- Alzheimer's disease research and treatments
- Genetic Associations and Epidemiology
- Dementia and Cognitive Impairment Research
- Genetics and Neurodevelopmental Disorders
- Bioinformatics and Genomic Networks
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Health, Environment, Cognitive Aging
- Neuroinflammation and Neurodegeneration Mechanisms
- Folate and B Vitamins Research
- Genomic variations and chromosomal abnormalities
- Gene expression and cancer classification
- Hearing, Cochlea, Tinnitus, Genetics
- RNA regulation and disease
- Renin-Angiotensin System Studies
- Neuroscience and Neuropharmacology Research
- Functional Brain Connectivity Studies
- Autism Spectrum Disorder Research
- RNA Research and Splicing
- Congenital heart defects research
- Long-Term Effects of COVID-19
- CRISPR and Genetic Engineering
- Neurological diseases and metabolism
- RNA modifications and cancer
- Stress Responses and Cortisol
Translational Genomics Research Institute
2016-2025
Arizona Alzheimer’s Consortium
2011-2024
Alzheimer's Association
2012-2024
City Of Hope National Medical Center
2022-2024
City of Hope
2022-2024
University of Arizona
2009-2024
University of Stavanger
2024
Alzheimer’s Disease Neuroimaging Initiative
2012-2023
Neurobehavioral Research (United States)
2023
Arizona State University
2016-2020
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified genetic sharing 25 disorders from genome-wide association studies 265,218 patients 784,643 control participants assessed relationship to 17 phenotypes 1,191,588 individuals. Psychiatric common variant risk, whereas neurological appear more distinct one another psychiatric disorders. also identified significant between a number...
Background Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought identify new genes, using an alternative gene-wide analytical approach tests patterns of association within in the powerful genome-wide dataset International Genomics Project Consortium, comprising over 7 m genotypes from 25,580 cases and 48,466 controls. Principal Findings In addition...
Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier. We report a homozygous mutation in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, diminished deep-tendon reflexes. Intractable seizures began early childhood, after which language regression, hyperactivity, impulsive aggressive behavior, mental retardation developed all children. Resective surgery did not...
The role of the Alzheimer's Disease Neuroimaging Initiative Genetics Core is to facilitate investigation genetic influences on disease onset and trajectory as reflected in structural, functional, molecular imaging changes; fluid biomarkers; cognitive status. Major goals include (1) blood sample processing, genotyping, dissemination, (2) genome‐wide association studies (GWAS) longitudinal phenotypic data, (3) providing a central resource, point contact planning group for genetics within...
Human memory is a polygenic trait. We performed genome-wide screen to identify memory-related gene variants. A genomic locus encoding the brain protein KIBRA was significantly associated with performance in three independent, cognitively normal cohorts from Switzerland and United States. Gene expression studies showed that expressed structures. Functional magnetic resonance imaging detected allele–dependent differences hippocampal activations during retrieval. Evidence these experiments...
The ɛ4 allele of the apolipoprotein E (APOE) gene is currently strongest and most highly replicated genetic factor for risk age onset late-onset Alzheimer's disease (LOAD). Using phylogenetic analysis, we have identified a polymorphic poly-T variant, rs10524523, in translocase outer mitochondrial membrane 40 homolog (TOMM40) that provides greatly increased precision estimation LOAD APOE ɛ3 carriers. In two independent clinical cohorts, longer lengths rs10524523 are associated with higher...
Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk Alzheimer's dementia, while APOE2 lower it not yet known whether homozygotes have particularly low risk. We generated dementia odds ratios and other findings in more than 5,000 clinically characterized neuropathologically cases controls. APOE2/2 was compared to APOE2/3 3/3, an exceptionally ratio APOE4/4, impact APOE4 gene dose significantly greater confirmed group 24,000 unconfirmed Finding...
Converging evidence suggests brain structure alterations may precede overt cognitive impairment in Alzheimer disease by several decades. Early detection of these holds inherent value for the development and evaluation preventive treatment therapies. To compare magnetic resonance imaging measurements white matter myelin water fraction (MWF) gray volume (GMV) healthy infant carriers noncarriers apolipoprotein E (APOE) ε4 allele, major susceptibility gene late-onset AD. Quiet was performed at...
Alzheimer's disease (AD) is a complex genetic disorder with no effective treatments. More than 20 common markers have been identified, which are associated AD. Recently, several rare variants identified in Amyloid Precursor Protein (APP), Triggering Receptor Expressed On Myeloid Cells 2 (TREM2) and Unc-5 Netrin C (UNC5C) that affect risk for Despite the many successes, architecture of AD remains unsolved. We used Genome-wide Complex Trait Analysis to (1) estimate phenotypic variance...
Abstract Background Late‐onset Alzheimer's disease (AD) is heritable with 20 genes showing genome‐wide association in the International Genomics of Project (IGAP). To identify biology underlying disease, we extended these genetic data a pathway analysis. Methods The ALIGATOR and GSEA algorithms were used IGAP to associated functional pathways correlated gene expression networks human brain. Results identified an excess curated biological enrichment association. Enriched areas included immune...
Magnetic resonance imaging (MRI) allows important visualization of the brain and central nervous system anatomy organization. However, unlike electroencephalography (EEG) or functional near infrared spectroscopy, which can be brought to a patient study participant, MRI remains hospital center-based modality. Low magnetic field strength systems, however, offer potential extend beyond these traditional center boundaries. Here we describe development modified cargo van that incorporates...
In this study, we assess 34 of the most replicated genetic associations for Alzheimer's disease (AD) using data generated on Affymetrix SNP 6.0 arrays and imputed at over 5.7 million markers from a unique cohort 1600 neuropathologically defined AD cases controls (1019 591 controls). Testing top genes AlzGene meta-analysis, confirm well-known association with APOE single nucleotide polymorphisms (SNPs), CLU, PICALM CR1 SNPs recently implicated in unusually large sets, previously CST3 ACE...