ArticleNeurobiology of aging2020
Volumetric GWAS of medial temporal lobe structures identifies an ERC1 locus using ADNI high-resolution T2-weighted MRI data.
Article in Neurobiology of aging, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Morphometry of medial temporal lobe subregions using high-resolution T2-weighted MRI in ADNI3: Why, how, and what's next?Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- The effects of environmental factors associated with childhood urbanicity on brain structure and cognition.BMC psychiatry · 2023Article
- A review of brain imaging biomarker genomics in Alzheimer's disease: implementation and perspectives.Translational neurodegeneration · 2022Review
- Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1.BMC genomics · 2022Article
- Hippocampal Subregion and Gene Detection in Alzheimer's Disease Based on Genetic Clustering Random Forest.Genes · 2021Article
- Genetic Influence Underlying Brain Connectivity Phenotype: A Study on Two Age-Specific Cohorts.Frontiers in genetics · 2021Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Medial temporal lobe (MTL) consists of hippocampal subfields and neighboring cortices. These heterogeneous structures are differentially involved in memory, cognitive and emotional functions, and present nonuniformly distributed atrophy contributing to cognitive disorders. This study aims to examine how genetics influences Alzheimer's disease (AD) pathogenesis via MTL substructures by analyzing high-resolution magnetic resonance imaging (MRI) data. We performed genome-wide association study to examine the associations between 565,373 single nucleotide polymorphisms (SNPs) and 14 MTL substructure volumes. A novel association with right Brodmann area 36 volume was discovered in an ERC1 SNP (i.e., rs2968869). Further analyses on larger samples found rs2968869 to be associated with gray matter density and glucose metabolism measures in the right hippocampus, and disease status. Tissue-specific transcriptomic analysis identified the minor allele of rs2968869 (rs2968869-C) to be associated with reduced ERC1 expression in the hippocampus. All the findings indicated a protective role of rs2968869-C in AD. We demonstrated the power of high-resolution MRI and the promise of fine-grained MTL substructures for revealing the genetic basis of AD biomarkers.
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