Association of SPI1 Haplotypes with Altered SPI1 Gene Expression and Alzheimer's Disease Risk.

ABSTRACT:

Background

Genetic studies reveal that single-nucleotide polymorphisms (SNPs) of SPI1 are associated with Alzheimer's disease (AD), while their effects in the Chinese population remain unclear.

Objective

We aimed to examine the AD-association of SPI1 SNPs in the Chinese population and investigate the underlying mechanisms of these SNPs in modulating AD risk.

Methods

We conducted a genetic analysis of three SPI1 SNPs (i.e., rs1057233, rs3740688, and rs78245530) in a Chinese cohort (n = 333 patients with AD, n = 721 normal controls). We also probed public European-descent AD cohorts and gene expression datasets to investigate the putative functions of those SNPs.

Results

We showed that SPI1 SNP rs3740688 is significantly associated with AD in the Chinese populati

SUBMITTER: Cao H 

PROVIDER: S-EPMC9108557 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature