---
title: "NG00110 – Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease"
id: "7749"
type: "dataset"
slug: "ng00110"
published_at: "2025-01-21T21:51:25+00:00"
modified_at: "2026-10-16T19:26:12+00:00"
url: "https://dss.niagads.org/datasets/ng00110/"
markdown_url: "https://dss.niagads.org/datasets/ng00110.md"
excerpt: "All data provided in this dataset are open access and are available publicly in the “Open Access Dataset” tab for NG00110."
taxonomy_dataset_categories:
  - "AD"
  - "Summary Statistics"
---

## Overview

All data provided in this dataset are open access and are available publicly in the “Open Access Dataset” tab for NG00110.

#### 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.

#### Available Filesets

| Name | Accession | Latest Release | Description |
| --- | --- | --- | --- |
| NG00110 Summary Statistics (open access) | fsa000189 | NG00110.v1 | Summary Statistics |

View the [File Manifest](https://st1.niagads.org/portal/download-public/NG00110.v1/fm)
 for a full list of files released in this dataset.

## Related Studies

- [sa000092 - Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease](https://dss.niagads.org/studies/sa000092/) 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/studies/sa000092/)

## 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.

Use the study-specific acknowledgement statements below (as applicable):

### For investigators using any data from this dataset:

Please cite/reference the use of NIAGADS data by including the accession [NG00110](https://archive.niagads.org/datasets/NG00110)
.

### For investigators using Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease (sa000092) 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/)

### Total number of participants: 0

## Source Datasets

This dataset was generated using the following source dataset(s):

- [NG00067 - Alzheimer's Disease Sequencing Project Umbrella Study](/datasets/ng00067)