--- title: "Genetic Architecture of Alzheimer’s disease and Related Proteinopathies" id: "7173" type: "study" slug: "sa000059" published_at: "2024-11-27T16:18:05+00:00" modified_at: "2026-03-26T16:31:12+00:00" url: "https://dss.niagads.org/studies/sa000059/" markdown_url: "https://dss.niagads.org/studies/sa000059.md" excerpt: "This is a collaborative study between investigators from the University of Pittsburgh (Pitt) and Washington University (WashU) to delineate the genetic architecture of Alzheimer’s disease (AD) and AD-related proteinopathies. The participants are from a number of genetic studies being carried..." --- ## Description This is a collaborative study between investigators from the University of Pittsburgh (Pitt) and Washington University (WashU) to delineate the genetic architecture of Alzheimer’s disease (AD) and AD-related proteinopathies. The participants are from a number of genetic studies being carried out on AD and AD-related dementias and non-AD subjects from 1) the Pitt-ADRC and ancillary studies and 2) Knight-ADRC Memory and Aging Project (MAP) study. The study samples are comprised of approximately 90% whites, 10% blacks, and 50% females with a mean age of 77.7 years. ## PI Carlos Cruchaga *Washington University* Ilyas Kamboh *University of Pittsburgh* ## Associated Datasets - [NG00067 - ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/) ## Associated Sample Sets - [snd10098 - Amyloid-WU WGS](https://dss.niagads.org/sample-sets/snd10098/) The sample dataset was collected from the KnightADRC cohort. 1,113 participants were sequenced by MGI using Illumina NovaSeq technology. FASTQ and BAM files were sent to GCAD for processing. A… [Learn more](https://dss.niagads.org/sample-sets/snd10098/) - [snd10100 - Amyloid-Pitt WGS](https://dss.niagads.org/sample-sets/snd10100/) A total of 1,195 samples were sequenced at MGI and NYGC on the NovaSeq6000 platform. 498 bam and 697 cram files were sent to GCAD for processing. A total of… [Learn more](https://dss.niagads.org/sample-sets/snd10100/) ## Cohorts - [Brain Amyloid Cognitive Normal Elders Study (BACNE)](https://dss.niagads.org/cohorts/brain-amyloid-cognitive-normal-elders-study/) Please reach out to Dr. Ilyas Kamboh, University of Pittsburgh, for more information. [Learn more](https://dss.niagads.org/cohorts/brain-amyloid-cognitive-normal-elders-study/) - [Heart SCORE](https://dss.niagads.org/cohorts/heart-score/) Bambs CE, Kip KE, Mulukutla SR, Aiyer AN, Johnson C, McDowell LA, Matthews K, Reis SE. Sociodemographic, clinical, and psychological factors associated with attrition in a prospective study of cardiovascular… [Learn more](https://dss.niagads.org/cohorts/heart-score/) - [Human Connectome Project](https://dss.niagads.org/cohorts/human-connectome-project/) Please reach out to Dr. Ilyas Kamboh, University of Pittsburgh, for more information. [Learn more](https://dss.niagads.org/cohorts/human-connectome-project/) - [Knight Alzheimer’s Disease Research Center (KGAD)](https://dss.niagads.org/cohorts/knight-alzheimers-disease-research-center-kgad/) The search for novel risk factors for Alzheimer disease relies on access to accurate and deeply phenotyped datasets. The Memory and Aging Project at the Knight-ADRC (Knight ADRC-MAP) collects plasma,… [Learn more](https://dss.niagads.org/cohorts/knight-alzheimers-disease-research-center-kgad/) - [The Ginkgo Evaluation of Memory Study](https://dss.niagads.org/cohorts/the-ginkgo-evaluation-of-memory-study/) U01 AT000162 from the National Center for Complementary and Alternative Medicine. DeKosky ST, Fitzpatrick A, Ives DG, Saxton J, Williamson J, Lopez OL, Burke G, Fried L, Kuller LH, Robbins… [Learn more](https://dss.niagads.org/cohorts/the-ginkgo-evaluation-of-memory-study/) - [The Monongahela-Youghiogheny Healthy Aging Team (MYHAT)](https://dss.niagads.org/cohorts/the-monongahela-youghiogheny-healthy-aging-team-myhat/) Mild Cognitive Impairment: A Prospective Community Study.The Monongahela-Youghiogheny Healthy Aging Team study is supported in part by the National Institute on Aging under research grant R01 AG023651.The MYHAT project seeks… [Learn more](https://dss.niagads.org/cohorts/the-monongahela-youghiogheny-healthy-aging-team-myhat/) - [University of Pittsburgh (PITT)](https://dss.niagads.org/cohorts/university-of-pittsburgh-pitt/) Study participants were enrolled at the University of Pittsburgh Alzheimer's Disease Research Center (ADRC), all of whom met the National Institute of Neurological and Communicative Disorders and Stroke/Alzheimer's Disease and… [Learn more](https://dss.niagads.org/cohorts/university-of-pittsburgh-pitt/) ## Grants Genetic Architecture of Alzheimer’s Disease Proteinopathies – R01 AG064877 ## Acknowledgement ### Acknowledgment statement for any data distributed by NIAGADS: Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer's Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging. ### For investigators using Genetic Architecture of Alzheimer’s disease and Related Proteinopathies data: This work was made possible by the support from the National Institutes of Health grants: **Pitt:** AG064877, AG030653, AG041718, P30-AG066468, U01 AT000162, AG023651, AG052521, AG025516,UF1 AG051197, P01 AG025204, RF1 AG052525**,**AG052446. **WashU**: R01AG044546, P01AG003991, RF1AG053303, R01AG058501, U01AG058922, RF1AG058501 and R01AG057777). The recruitment and clinical characterization of research participants at Washington University were supported by NIH P50 AG05681, P01 AG03991, and P01 AG026276. This work was supported by access to equipment made possible by the Hope Center for Neurological Disorders, and the Departments of Neurology and Psychiatry at Washington University School of Medicine. We thank the contributors who collected samples used in this study, as well as patients and their families, whose help and participation made this work possible. This work was supported by access to equipment made possible by the Hope Center for Neurological Disorders, and the Departments of Neurology and Psychiatry at Washington University School of Medicine. ## Publications - Olive C. **Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.***Journal of Alzheimer's disease : JAD. 2020.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/32894242/) - Yang C. **Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.***Nature neuroscience. 2021 Sep.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/34239129/) - Ali M. **Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk.***PloS one. 2022.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/35617280/)