---
title: "University of Pittsburgh- Kamboh"
id: "2351"
type: "study"
slug: "sa000012"
published_at: "2021-02-25T19:57:19+00:00"
modified_at: "2026-07-17T14:48:04+00:00"
url: "https://dss.niagads.org/studies/sa000012/"
markdown_url: "https://dss.niagads.org/studies/sa000012.md"
excerpt: "The project goal is to perform whole-genome sequencing (WGS) on Alzheimer’s disease (AD) cases to identify both common and uncommon variants associated with AD-related phenotypes (e.g., disease progression, survival time). All subjects were Caucasians with probable or possible having age..."
---

## Description

The project goal is to perform whole-genome sequencing (WGS) on Alzheimer’s disease (AD) cases to identify both common and uncommon variants associated with AD-related phenotypes (e.g., disease progression, survival time). All subjects were Caucasians with probable or possible having age at onset of 60 or above. Whole-genome sequencing was performed using Illumina HiSeqX.

## PI

Ilyas Kamboh, PhD  
 *University of Pittsburgh*

## Associated Datasets

- [NG00067 - ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/)

## Associated Sample Sets

- [snd10012 - UPITT Kamboh 1 WGS](https://dss.niagads.org/sample-sets/snd10012/) UPITT samples were whole-genome sequenced at New York Genome Center on the HiSeqX machine. BAM files from hg37 build were sent to GCAD for processing on the VCPA1.1 pipeline. 209… [Learn more](https://dss.niagads.org/sample-sets/snd10012/)
- [snd10091 - Pitt-Kamboh-2 WGS](https://dss.niagads.org/sample-sets/snd10091/) 209 samples of the PITT cohort underwent whole-genome sequencing at NYGC using the Illumina HiSeqX platform. The resulting BAM files were sent to GCAD for processing via the VCPA1.1 pipeline.… [Learn more](https://dss.niagads.org/sample-sets/snd10091/)

## Cohorts

- [University of Pittsburgh (PITT)](https://dss.niagads.org/cohorts/university-of-pittsburgh-pitt/) Study participants were enrolled at the University of Pittsburgh Alzheimer's Disease Research Center (ADRC), all of whom met the National Institute of Neurological and Communicative Disorders and Stroke/Alzheimer's Disease and… [Learn more](https://dss.niagads.org/cohorts/university-of-pittsburgh-pitt/)

## Grants

This study is supported by NIH grants R01 AG030653, R01 AG041718, R01 AG064877, and P30 AG066468.

## 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 University of Pittsburgh- Kamboh data:

This study was supported by the National Institute on Aging (NIA) grants AG030653, AG041718, AG064877 and P30-AG066468.

## Publications

- Kamboh MI. **Genome-wide association analysis of age-at-onset in Alzheimer's disease.***Molecular psychiatry. 2012 Dec.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/22005931/)
- Kamboh MI. **Genome-wide association study of Alzheimer's disease.***Translational psychiatry. 2012 May 15.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/22832961/)
- Wang X. **Genetic determinants of disease progression in Alzheimer's disease.***Journal of Alzheimer's disease : JAD. 2015.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/25114068/)
- Fan KH. **Whole-Exome Sequencing Analysis of Alzheimer's Disease in Non-APOE*4 Carriers.***Journal of Alzheimer's disease : JAD. 2020.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/32651314/)