---
title: "Four large scale pQTL and mQTL atlases in plasma from European and African ancestral groups"
id: "8430"
type: "study"
slug: "sa000074"
published_at: "2025-08-14T19:40:39+00:00"
modified_at: "2026-03-26T16:42:32+00:00"
url: "https://dss.niagads.org/studies/sa000074/"
markdown_url: "https://dss.niagads.org/studies/sa000074.md"
excerpt: "Initially focused on the European population, multiple genome-wide association studies (GWAS) of complex diseases, such as type-2 diabetes (T2D), Alzheimer disease (AD), have now extended to other populations. However, to date, few ancestry-matched omics datasets have been generated or further..."
---

## Description

Initially focused on the European population, multiple genome-wide association studies (GWAS) of complex diseases, such as type-2 diabetes (T2D), Alzheimer disease (AD), have now extended to other populations. However, to date, few ancestry-matched omics datasets have been generated or further integrated with the disease GWAS to nominate the key genes and/or molecular traits underlying the disease risk loci. In this study, we generated and integrated plasma proteomics and metabolomics with the genotype datasets of over 2,300 European (EUR) and 400 African (AFR) ancestries to identify ancestry-specific multi-omics quantitative trait loci (QTLs). In total, we mapped 954 AFR pQTLs, 2,848 EUR pQTLs, 65 AFR mQTLs, and 490 EUR mQTLs. We further applied these ancestry-stratified QTLs to the risk of metabolic disorders, (e.g. T2D, AD) to pinpoint key proteins and metabolites underlying the disease-associated genetic loci.

## PI

Carlos Cruchaga  
 *Washington University in St. Louis*

## Associated Datasets

- [NG00180 - Four large scale pQTL and mQTL atlases in plasma from European and African ancestral groups](https://dss.niagads.org/datasets/ng00180/) To build ancestry-stratified genetic maps of the plasma proteome and metabolome, we performed pQTL and metabolite-QTL (mQTL) analyses on participants of African and European ancestry from Knight-ADRC cohort separately. We… [Learn more](https://dss.niagads.org/datasets/ng00180/)

## Grants

National Institutes of Health (R01AG044546 (CC), P01AG003991 (CC), RF1AG053303 (CC), RF1AG058501 (CC), U01AG058922 (CC), RF1AG074007 (YJS)), the Chan Zuckerberg Initiative, the Michael J. Fox Foundation (CC), and the Alzheimer’s Association Zenith Fellows Award (ZEN-22-848604, CC).

## 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 Four large scale pQTL and mQTL atlases in plasma from European and African ancestral groups data:

We thank all the participants for giving consent included in this study. We thank the contributions of John Budde and Pat Kohlfeld for sample preparation and shipment. Funding: This work was supported by grants from the National Institutes of Health (R01AG044546 (CC), P01AG003991 (CC), RF1AG053303 (CC), RF1AG058501 (CC), U01AG058922 (CC), RF1AG074007 (YJS)), the Chan Zuckerberg Initiative, the Michael J. Fox Foundation (CC), and the Alzheimer’s Association Zenith Fellows Award (ZEN-22-848604, CC).

## Publications

- Yang C. **European and African ancestry-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites.***Nature communications. 2025 Aug 11.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/40789849/)