---
title: "National Institute of Aging Alzheimer’s Disease Family Based Study (NIA AD-FBS)"
id: "962"
type: "cohort"
slug: "national-institute-on-aging-late-onset-of-alzheimers-disease-family-nia-load"
published_at: "2019-06-17T20:21:17+00:00"
modified_at: "2026-05-28T15:20:45+00:00"
url: "https://dss.niagads.org/cohorts/national-institute-on-aging-late-onset-of-alzheimers-disease-family-nia-load/"
markdown_url: "https://dss.niagads.org/cohorts/national-institute-on-aging-late-onset-of-alzheimers-disease-family-nia-load.md"
excerpt: "The FBS collection is a longitudinal, multi-center late onset AD sibling genetics initiative. This NIA-funded study began in 2,002 and maintains DNA and cell lines on families with 2 or more siblings with AD (at least one probable or confirmed..."
taxonomy_cohort_categories:
  - "ADSP"
taxonomy_cohort_countries:
  - "United States of America"
---

Website:

[https://www.alzheimersfamilystudy.org/](https://www.alzheimersfamilystudy.org/)

## Description

The FBS collection is a longitudinal, multi-center late onset AD sibling genetics initiative. This NIA-funded study began in 2,002 and maintains DNA and cell lines on families with 2 or more siblings with AD (at least one probable or confirmed AD) (n=5,291). A third family member who is either affected or unaffected is also required. These individuals are evaluated in person and/or over the phone. A minimum dataset is collected for each person in the family. Definite AD is defined by established neuropathological criteria (and confirmed by autopsy). Probable or possible AD is defined according to NINCDS-ADRDA criteria. Autopsy is offered to all subjects.

Related AD multiplex families including non‐Hispanic whites, African Americans, and Caribbean Hispanics from the Dominican Republic. Assessments include: medical evaluation, cognitive testing, autopsy and biomarkers studies.

See the [NIA-AD FBS Study](https://dss.niagads.org/studies/national-institute-of-aging-alzheimers-disease-family-based-study-nia-ad-fbs/)
 for more information.

## Related Datasets

- [NG00020 – NIA AD-FBS GWAS](https://dss.niagads.org/datasets/ng00020/) The goal of the National Institute of Aging Alzheimer’s Disease Family Based Study, NIA AD-FBS (formerly National Institute on Aging Genetics Initiative for Late-Onset Alzheimer’s Disease, NIA-LOAD) is to identify… [Learn more](https://dss.niagads.org/datasets/ng00020/)
- [NG00035 – GWAS of CSF tau levels identifies risk variants for Alzheimer’s Disease](https://dss.niagads.org/datasets/ng00035/) Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ₄₂ are established biomarkers for Alzheimer’s disease (AD) and have been used as quantitative traits for genetic analyses. This… [Learn more](https://dss.niagads.org/datasets/ng00035/)
- [NG00050 – GWAS of CLU, A potential endophenotype for Alzheimer’s disease](https://dss.niagads.org/datasets/ng00050/) This dataset is part of a genome-wide association study investigating the role of Clusterin (CLU – Endophenotype for AD) in Alzheimer’s Disease. It includes imputed genotype data with 6,015,512 SNPs,… [Learn more](https://dss.niagads.org/datasets/ng00050/)
- [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/)
- [NG00116 – Resolving Mutations in Challenging Genomic Regions to Test Association with Disease Phenotypes](https://dss.niagads.org/datasets/ng00116/) Many regions of the human genome present challenges that prohibit scientists from discovering potential disease-causing mutations. We developed methods to characterize mutations in these regions to rescue mutations that are… [Learn more](https://dss.niagads.org/datasets/ng00116/)
- [NG00176-CNVs from ADSP WES data using CANOES software](https://dss.niagads.org/datasets/ng00176/) This dataset contains Copy Number Variation (CNV) calling from the Whole Exome Sequencing (WES) from multiple distinct Alzheimer Disease (AD) sequencing projects: both discovery and replication ADSP family dataset, ADSP… [Learn more](https://dss.niagads.org/datasets/ng00176/)
- [NG00196- Genotyping short tandem repeats using the ADSP R4 cohort](https://dss.niagads.org/datasets/ng00196/) A two-step pipeline was used to first identify expanded short tandem repeats (STRs) in ADSP samples using ExpansionHunter Denovo and then genotype the identified STRs, along with additional polymorphic STRs… [Learn more](https://dss.niagads.org/datasets/ng00196/)

## Related Studies

- [sa000001 - Alzheimer’s Disease Sequencing Project (ADSP)](https://dss.niagads.org/studies/sa000001/) Background An initiative in response to the National Alzheimer’s Project Act (NAPA) has been working towards new biological insights and cures for Alzheimer’s Disease (AD) since its introduction by NIH… [Learn more](https://dss.niagads.org/studies/sa000001/)
- [sa000013 - APOE Extremes WGS Study](https://dss.niagads.org/studies/sa000013/) The APOE extremes whole genome sequencing (WGS) study entails Alzheimer’s disease (AD) case-control association analysis using an age extremes sampling approach stratified by APOE genotype, comparing younger onset AD cases… [Learn more](https://dss.niagads.org/studies/sa000013/)
- [sa000005 - Brkanac – Family-based genome scan for AAO of LOAD](https://dss.niagads.org/studies/sa000005/) In this study, a family-based genome-wide association study was performed for AAO of late-onset AD in whole exome sequence data generated in multigenerational families with multiple AD cases (n=77). Single… [Learn more](https://dss.niagads.org/studies/sa000005/)
- [sa000008 - Charles F. and Joanne Knight Alzheimer’s Disease Research Center (Knight ADRC)](https://dss.niagads.org/studies/sa000008/) 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/studies/sa000008/)
- [sa000081 - Extremely Rare CNVs and Alzheimer’s Disease Risk: Analysis of ADSP WES Data](https://dss.niagads.org/studies/sa000081/) The purpose of this study is to find new Alzheimer related variants and genes, by combining exome data from healthy controls and Alzheimer patients from different studies. CNV calling was… [Learn more](https://dss.niagads.org/studies/sa000081/)
- [sa000087 - Genotyping short tandem repeats using ADSP R4](https://dss.niagads.org/studies/sa000087/) Variation in tandem repeats (TRs), particularly large expansions of triplet repeats (e.g., polyCAG), is known to cause a number of late-onset neurological diseases. Due to their repetitive and degenerate nature,… [Learn more](https://dss.niagads.org/studies/sa000087/)
- [sa000063 - National Institute of Aging Alzheimer’s Disease Family Based Study (NIA AD-FBS)](https://dss.niagads.org/studies/sa000063/) The National Institute on Aging Alzheimer's Disease Family Based Study (NIA AD-FBS) is the largest collection of multiplex AD families recruited and longitudinally assessed worldwide. Since 2003, the central goal… [Learn more](https://dss.niagads.org/studies/sa000063/)
- [sa000042 - Resolving mutations in challenging genomic regions to test association with disease phenotypes](https://dss.niagads.org/studies/sa000042/) Many regions of the human genome present challenges that prohibit scientists from discovering potential disease causing mutations. We developed methods to characterize mutations in these regions to rescue mutations that… [Learn more](https://dss.niagads.org/studies/sa000042/)
- [sa000004 - The Familial Alzheimer Sequencing (FASe) project](https://dss.niagads.org/studies/sa000004/) GWAS studies were very successful in identifying genetic loci associated with AD risk. However, these studies could not point to the actual causal variant. In this study, WES and/or WGS… [Learn more](https://dss.niagads.org/studies/sa000004/)

## Related Sample Sets

- [snd10000 - ADSP Discovery](https://dss.niagads.org/sample-sets/snd10000/) The initial phase of the ADSP research plan is called the Discovery Phase. Samples were selected from well-characterized study cohorts of individuals with or without an AD diagnosis and the… [Learn more](https://dss.niagads.org/sample-sets/snd10000/)
- [snd10001 - ADSP Extension](https://dss.niagads.org/sample-sets/snd10001/) The ADSP Discovery Family-Based Extension Study: To further assess the genomes in multiply affected families, under funding provided by NHGRI, an additional 427 samples were whole genome sequenced. This included… [Learn more](https://dss.niagads.org/sample-sets/snd10001/)
- [snd10004 - FASe Families WES](https://dss.niagads.org/sample-sets/snd10004/) FASe Family samples were sequenced at Genentech, MGI and Otogenetics on the HiSeq2000 machine. 715 samples were sequenced using the Agilent WES v5 capture region, 164 samples were using the… [Learn more](https://dss.niagads.org/sample-sets/snd10004/)
- [snd10005 - Brkanac Families WES](https://dss.niagads.org/sample-sets/snd10005/) This is a family design study. Samples were sequenced at Department of Genome Sciences, University of Washington on the HiSeq2000 machine. 77 samples were sequenced using the Roche SeqCap EZ… [Learn more](https://dss.niagads.org/sample-sets/snd10005/)
- [snd10018 - FASe_Families WGS](https://dss.niagads.org/sample-sets/snd10018/) FASe_WGS samples were whole-genome sequenced at Broad either on the HiSeqX or HiSeq2000/2500 machine. Samples in either format (BAM files from hg37 build and FASTQ files) were sent to GCAD… [Learn more](https://dss.niagads.org/sample-sets/snd10018/)
- [snd10031 - ADSP-FUS2 WGS](https://dss.niagads.org/sample-sets/snd10031/) The ADSP-FUS is a National Institute on Aging (NIA) initiative focused on identifying genetic risk and protective variants for late-onset Alzheimer Disease (LOAD). A concern in AD genetic studies is… [Learn more](https://dss.niagads.org/sample-sets/snd10031/)
- [snd10074 - Camouflaged Variants](https://dss.niagads.org/sample-sets/snd10074/) Provided here are variant calls in VCF format for 14,526 samples derived from the ADSP whole-exome and whole-genome sequencing dataset (available via DSS: NG00067). [Learn more](https://dss.niagads.org/sample-sets/snd10074/)
- [snd10101 - FASe-Families2 WGS](https://dss.niagads.org/sample-sets/snd10101/) 659 samples were sequenced by USUHS and Macrogen on the NovaSeq and Illumina HiSeq 2500 platform. GCAD received FASTQ and CRAM files for processing. A total of 646 samples passed… [Learn more](https://dss.niagads.org/sample-sets/snd10101/)
- [snd10103 - APOEExtremes1 WGS](https://dss.niagads.org/sample-sets/snd10103/) 27 samples were sequenced at Genentech on Illumina HiSeqX and Illumina platforms. CRAM files were sent to GCAD for processing. A total of 21 samples passed sequencing metrics and quality… [Learn more](https://dss.niagads.org/sample-sets/snd10103/)
- [snd10105 - NIA-AD-FBS1 WGS](https://dss.niagads.org/sample-sets/snd10105/) A total of 999 NIA-FBS cohort samples were sequenced at NYGC on the Illumina HiSeqX platform. The BAM files were sent to GCAD for processing through the VCPA1.1 pipeline. A… [Learn more](https://dss.niagads.org/sample-sets/snd10105/)
- [snd10111 - Knight ADRC GWAS of CSF](https://dss.niagads.org/sample-sets/snd10111/) Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ₄₂ are established biomarkers for Alzheimer's disease (AD) and have been used as quantitative traits for genetic analyses. This… [Learn more](https://dss.niagads.org/sample-sets/snd10111/)
- [snd10112 - Knight ADRC GWAS of CLU](https://dss.niagads.org/sample-sets/snd10112/) This dataset is part of a genome-wide association study investigating the role of Clusterin (CLU - Endophenotype for AD) in Alzheimer's Disease. It includes imputed genotype data with 6,015,512 SNPs,… [Learn more](https://dss.niagads.org/sample-sets/snd10112/)
- [snd10139 - CNV Calling from ADSP Whole-Exome Sequencing (WES) Data](https://dss.niagads.org/sample-sets/snd10139/) This dataset comprises CNV calls from Whole Exome Sequencing (WES) across multiple distinct Alzheimer’s Disease (AD) sequencing projects, including the discovery and replication ADSP family datasets, the ADSP case-control dataset,… [Learn more](https://dss.niagads.org/sample-sets/snd10139/)
- [snd10144 - NIA AD-FBS GWAS](https://dss.niagads.org/sample-sets/snd10144/) Genotyping done by the Center for Inherited Disease Research (CIDR) was performed using the Illumina Infinium II assay protocol with hybridization to Illumina Human 610Quadv1_B Beadchips. When first deposited in… [Learn more](https://dss.niagads.org/sample-sets/snd10144/)
- [snd10147 - ADSP R4 Short Tandem Repeats (STRs)](https://dss.niagads.org/sample-sets/snd10147/) This dataset comprises short tandem repeat (STR) genotypes from 31,681 whole-genome sequencing (WGS) samples from the ADSP R4 data release. The STRs were genotyped using ExpansionHunter with a custom catalog… [Learn more](https://dss.niagads.org/sample-sets/snd10147/)

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