---
title: "Cell-type specific expression quantitative trait loci associated with Alzheimer disease in blood and brain tissue – Patel et al., 2021"
id: "8955"
type: "study"
slug: "sa000082"
published_at: "2026-05-06T13:50:31+00:00"
modified_at: "2026-05-06T15:26:04+00:00"
url: "https://dss.niagads.org/studies/sa000082/"
markdown_url: "https://dss.niagads.org/studies/sa000082.md"
excerpt: "This study investigated AD-related gene expression patterns in blood and brain cells types. A genome-wide cis ct-eQTL analysis was performed in blood and brain tissue donated by participants of the Framingham Heart Study and ROSMAP study, respectively. eQTLs and cell-type-specific..."
---

## Description

This study investigated AD-related gene expression patterns in blood and brain cells types. A genome-wide cis ct-eQTL analysis was performed in blood and brain tissue donated by participants of the Framingham Heart Study and ROSMAP study, respectively. eQTLs and cell-type-specific eQTLs (ct-eQTLs) were compared between brain and blood with a focus on genes, loci, and cell types previously implicated in AD risk by genetic approaches.

## PI

Lindsay Farrer  
 *Boston University School of Medicine*

Xiaoling Zhang  
 *Boston University School of Medicine*

## Associated Datasets

- [NG00120 – AD-associated cell-type-specific eQTLs (blood and brain) – Patel et al., 2021](https://dss.niagads.org/datasets/ng00120/) Cis-expression quantitative trait loci (eQTLs) and Cell type specific eQTLs (ct-eQTLs) were derived from blood and brain from participants of the Framingham Heart Study (blood, n=5257) and ROSMAP Study (brain,… [Learn more](https://dss.niagads.org/datasets/ng00120/)

## Grants

RF1-AG057519  
 2R01-AG048927  
 U01-AG058654  
 P30-AG13846  
 3U01-AG032984  
 U01-AG062602  
 U19-AG068753

## 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 Cell-type specific expression quantitative trait loci associated with Alzheimer disease in blood and brain tissue – Patel et al., 2021 data:

This study was supported by NIH grants RF1-AG057519, 2R01-AG048927 U01-AG058654, P30-AG13846, 3U01-AG032984, U01-AG062602, and U19-AG068753. Framingham brain bank data was supported by grants 75N92019D00031 and HHSN2682015000011. Collection of study data provided by the Rush Alzheimer’s Disease Center, Rush University Medical Center, Chicago was supported through funding by NIA grants P30AG10161, R01AG15819, R01AG17917, R01AG30146, R01AG36836, U01AG32984, U01AG46152, U01AG61358, a grant from the Illinois Department of Public Health, and the Translational Genomics Research Institute.

## Publications

- Patel D. **Cell-type-specific expression quantitative trait loci associated with Alzheimer disease in blood and brain tissue.***Translational psychiatry. 2021 Apr 27.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/33907181/)