ArticleBMC genomics2022
Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1.
Article in BMC genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 15 citations in OpenAlex.
- Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.Scientific reports · 2025Pooled it
- Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.Brain : a journal of neurology · 2023Pooled it
- A new era of genome-wide association studies in the field of Alzheimer's disease and overlapping co-pathologies: lessons learned from a neuropathology-centered approach.Acta neuropathologica · 2026Review
- S-GMAS: Genome-Wide Mediation Analysis With Brain Subcortical Shape Mediators.Human brain mapping · 2025Article
- Hypothesis-based investigation of known AD risk variants reveals the genetic underpinnings of neuropathological lesions observed in Alzheimer's-type dementia.Acta neuropathologica · 2024Article
- Comprehensive Overview of Alzheimer's Disease: Etiological Insights and Degradation Strategies.International journal of molecular sciences · 2024Review
- Longitudinal change in memory performance as a strong endophenotype for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- X chromosome-wide association study of quantitative biomarkers from the Alzheimer's Disease Neuroimaging Initiative study.Frontiers in aging neuroscience · 2023Article
- Discovering Precision AD Biomarkers with Varying Prognosis Effects in Genetics Driven Subpopulations.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2023Article
- Brain morphology mediating the effects of common genetic risk variants on Alzheimer's disease.Journal of Alzheimer's disease reportsArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGenetic study of quantitative biomarkers in Alzheimer's Disease (AD) is a promising method to identify novel genetic factors and relevant endophenotypes, which provides valuable information to deconvolute mechanistic complexity and better understand disease subtypes.
resultsUsing the data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), we performed a genome-wide association study (GWAS) between 565,373 single nucleotide polymorphisms (SNPs) and 16 key AD biomarkers from 1,576 subjects at four visits. We identified a novel locus rs5011804 at 12p12.1 significantly associated with several AD biomarkers, including three cognitive traits (CDRSB, FAQ, ADAS13) and one imaging trait (fusiform volume). Additional mediation and interaction analyses investigated the relationships among this SNP, relevant biomarkers, and clinical diagnosis, confirming and further elaborating the genetic effects seen in the GWAS.
conclusionOur GWAS not only affirms key AD genes but also suggests the promising role of the SNP rs5011804 due to its associations with several AD cognitive and imaging outcomes. The SNP rs5011804 has a reported association with adult asthma and slightly affects intracranial volume but has not been associated with AD before. Our novel findings contribute to a more comprehensive view of the molecular mechanism behind AD.
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