Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease.

ABSTRACT:

Introduction

A few copy number variations (CNVs) have been reported for Alzheimer's disease (AD). However, there is a lack of a systematic investigation of CNVs in AD based on whole genome sequencing (WGS) data.

Methods

We used four methods to identify consensus CNVs from the WGS data of 1,411 individuals and further investigated their functional roles in AD using the matched transcriptomic and clinicopathological data.

Results

We identified 3,012 rare AD-specific CNVs whose residing genes are enriched for cellular glucuronidation and neuron projection pathways. Genes whose mRNA expressions are significantly correlated with common CNVs are involved in major histocompatibility complex class II receptor activity. Integration of CNVs, gene expression, and clinical and pa

SUBMITTER: Ming C 

PROVIDER: S-EPMC9264340 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature