---
title: "Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA)"
id: "959"
type: "cohort"
slug: "estudio-familiar-de-influencia-genetica-en-alzheimer-efiga"
published_at: "2019-06-17T20:17:12+00:00"
modified_at: "2024-09-18T16:35:22+00:00"
url: "https://dss.niagads.org/cohorts/estudio-familiar-de-influencia-genetica-en-alzheimer-efiga/"
markdown_url: "https://dss.niagads.org/cohorts/estudio-familiar-de-influencia-genetica-en-alzheimer-efiga.md"
excerpt: "Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) included 683 at-risk family members from 242 AD-affected families of Caribbean Hispanic descent. These families have 2 or more individuals affected with Alzheimer’s disease. A system of recruitment was also set up..."
taxonomy_cohort_categories:
  - "ADSP"
taxonomy_cohort_countries:
  - "Dominican Republic"
  - "United States of America"
---

Website:

[http://www.cumc.columbia.edu/adrc/investigators](http://www.cumc.columbia.edu/adrc/investigators)

## Description

Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) included 683 at-risk family members from 242 AD-affected families of Caribbean Hispanic descent. These families have 2 or more individuals affected with Alzheimer’s disease. A system of recruitment was also set up in the Dominican Republic with the help of several local physicians, including the president of the Dominican Society of Geriatrics and Gerontology. All affected and unaffected family members are evaluated in person both in the Dominican Republic and New York. A case was defined as any individual meeting NINCDS-ADRDA criteria for probable or possible LOAD. The Clinical Dementia Rating was used to rate the severity of dementia. Brain imaging and other laboratory study results were reviewed, when available, to ensure full implementation of the NINCDS-ADRDA criteria.

Once patients with LOAD were identified, their illnesses were documented with standardized neurological and neuropsychological evaluations. Structured family history interviews were then conducted with available family members to determine whether patients had living siblings or relatives with the disease. Medical and neurological examinations were completed for all family members. Brains of participants with dementia and history of stroke were administered magnetic resonance imaging scans to exclude patients with comorbid cerebrovascular disease. DNA samples and cell lines are stored for all participating individuals.

The goal of this study is to root out genetic variants that increase late onset Alzheimer disease risk in this ethnic group. This study was initiated in 1998 and recruited subjects from the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain in New York as well as from clinics in the Dominican Republic.

## Related 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/)
- [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/)
- [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/)
- [sa000062 - Genetic Studies of Alzheimer’s Disease in Caribbean Hispanics (EFIGA)](https://dss.niagads.org/studies/sa000062/) The Genetic Studies of Alzheimer’s Disease in Caribbean Hispanics (EFIGA) is the largest collection of Caribbean Hispanic multiplex AD families recruited and longitudinally assessed worldwide. At this stage we are… [Learn more](https://dss.niagads.org/studies/sa000062/)
- [sa000056 - Genetic Studies of Alzheimer’s Disease in Korea](https://dss.niagads.org/studies/sa000056/) Alzheimer disease (AD), the most common neurodegenerative disease in the world, affects individuals of all races and ethnicities; however, most research about factors contributing to risk of AD has been… [Learn more](https://dss.niagads.org/studies/sa000056/)
- [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/)
- [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/)
- [sa000019 - The Diagnostic Assessment of Dementia for the Longitudinal Aging Study of India (LASI-DAD)](https://dss.niagads.org/studies/sa000019/) The Harmonized Diagnostic Assessment of Dementia for the Longitudinal Aging Study in India (LASI-DAD) is an add-on study to the Longitudinal Aging Study in India (LASI) focused on late-life cognition… [Learn more](https://dss.niagads.org/studies/sa000019/)

## 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/)
- [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/)
- [snd10033 - LASI-DAD WGS](https://dss.niagads.org/sample-sets/snd10033/) 2,768 LASI-DAD respondents from 18 diverse ethno-linguistic and genographic groups across India who consented to the blood sample collection samples were sequenced at Medgenome on the HiSeqX machine. FASTQ files… [Learn more](https://dss.niagads.org/sample-sets/snd10033/)
- [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/)
- [snd10092 - GARD1 WGS](https://dss.niagads.org/sample-sets/snd10092/) This sample dataset was collected from the GARD cohort. 2,002 participants and 5 replicates were sequenced by DNALINK using Illumina NovaSeq 6000 sequencing technology. FASTQ and CRAM files were sent… [Learn more](https://dss.niagads.org/sample-sets/snd10092/)
- [snd10094 - ADSP-FUS3 WGS](https://dss.niagads.org/sample-sets/snd10094/) 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/snd10094/)
- [snd10104 - EFIGA1 WGS](https://dss.niagads.org/sample-sets/snd10104/) A total of 1,396 EFIGA cohort samples were sequenced at NYGC and USUHS using the Illumina HiSeqX platform. The BAM files were sent to GCAD for processing through the VCPA1.1… [Learn more](https://dss.niagads.org/sample-sets/snd10104/)
- [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/)
- [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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