---
title: "Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease"
id: "9537"
type: "study"
slug: "sa000092"
published_at: "2026-10-16T17:16:42+00:00"
modified_at: "2026-10-16T19:29:16+00:00"
url: "https://dss.niagads.org/studies/sa000092/"
markdown_url: "https://dss.niagads.org/studies/sa000092.md"
excerpt: "Summary statistics of the age-of-onset association analyses of AD using the WES ADSP discovery sample. Variants with missing rate >2% or MAC ≤10 in each of the analyses were not included in the tables. Model 1: a model with all..."
---

## Description

Summary statistics of the age-of-onset association analyses of AD using the WES ADSP discovery sample. Variants with missing rate >2% or MAC ≤10 in each of the analyses were not included in the tables. Model 1: a model with all subjects adjusted for three significant PCs and sex; Model 2: a model with all subjects adjusted for the copy of APOE ε4, three significant PCs and sex; Model 3: a model with APOE ε4 non-carriers adjusted for three significant PCs and sex. The positions of the SNPs are based on hg19.

In this study, we carried out an exome-wide association analysis of age-of-onset of Alzheimer’s disease with the cohort from the WES ADSP discovery phase and placed more emphasis on APOE ε4 non-carriers.

## PI

Alexander Kulminski  
 *Duke University*

## Associated Datasets

- [NG00110 - Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease](https://dss.niagads.org/datasets/ng00110/) Summary statistics of the age-of-onset association analyses of AD using the WES ADSP discovery sample. Variants with missing rate >2% or MAC ≤10 in each of the analyses were not… [Learn more](https://dss.niagads.org/datasets/ng00110/)

## Grants

This research was supported by Grants from the National Institutes on Aging R01 AG047310, R01 AG061853, AG065477, and AG070488 to A.M.K. and RF1 AG054012, R01 AG058002, R01 AG062335, RF1 AG062377, U01 NS110453 to M.K., P30 AG10161, R01 AG15819, R01 AG17917, R01 AG36042, and R01 AG61356 to D.A.B.

## 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 Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease data:

This research was supported by Grants from the National Institutes on Aging R01 AG047310, R01 AG061853, AG065477, and AG070488 to A.M.K. and RF1 AG054012, R01 AG058002, R01 AG062335, RF1 AG062377, U01 NS110453 to M.K., P30 AG10161, R01 AG15819, R01 AG17917, R01 AG36042, and R01 AG61356 to D.A.B.

## Publications

- He L. **Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease.***Translational psychiatry. 2021 Feb 26.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/33637690/)