---
title: "CSF Aβ/ptau Summary Statistics – Deming Y. et al., 2017"
id: "9476"
type: "study"
slug: "sa000090"
published_at: "2026-10-16T14:43:38+00:00"
modified_at: "2026-10-29T14:33:24+00:00"
url: "https://dss.niagads.org/studies/sa000090/"
markdown_url: "https://dss.niagads.org/studies/sa000090.md"
excerpt: "More than 20 genetic loci have been associated with risk for Alzheimer’s disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms. Genetic studies using intermediate quantitative..."
---

## Overview

### Description

More than 20 genetic loci have been associated with risk for Alzheimer’s disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms. Genetic studies using intermediate quantitative traits such as biomarkers, or endophenotypes, benefit from increased statistical power to identify variants that may not pass the stringent multiple test correction in case-control studies. Endophenotypes also contain additional information helpful for identifying variants and genes associated with other aspects of disease, such as rate of progression or onset, and provide context to interpret the results from genome-wide association studies (GWAS). We conducted GWAS of amyloid beta (Aβ42), tau, and phosphorylated tau (ptau181) levels in cerebrospinal fluid (CSF) from 3146 participants across nine studies to identify novel variants associated with AD.

### Principal Investigators

- **Carlos Cruchaga** — Washington University

### Funding Sources

R01AG044546, P01AG003991, RF1AG053303, R01AG035083, R01NS085419

### Publications

- Deming Y. **Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.***Acta neuropathologica. 2017 May.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/28247064/)

## Associated Datasets

- [NG00055 - CSF Aβ/ptau Summary Statistics - Deming Y. et al., 2017](https://dss.niagads.org/datasets/ng00055/) 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/ng00055/)

## 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 CSF Aβ/ptau Summary Statistics - Deming Y. et al. (2017) data:

This work was supported by grants from the National Institutes of Health (R01AG044546, P01AG003991, RF1AG053303, R01AG035083, and R01NS085419), and the Alzheimer’s Association (NIRG-11-200110). The recruitment and clinical characterization of research participants at Washington University were supported by NIH P50 AG05681, P01 AG03991, and P01 AG026276.  
People using this dataset should also cite the original manuscript: Deming et al., Acta Neuropathol 2017.