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GWAS Study

Genome-wide association study identifies susceptibility loci of brain atrophy to NFIA and ST18 in Alzheimer's disease.

Kim BH, Nho K, Lee JM

33640202 PubMed ID
GWAS Study Type
1548 Participants
63 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KB
Kim BH
NK
Nho K
LJ
Lee JM
Chapter II

Abstract

Summary of the research findings

To identify genetic variants influencing cortical atrophy in Alzheimer's disease (AD), we performed genome-wide association studies (GWAS) of mean cortical thicknesses in 17 AD-related brain. In this study, we used neuroimaging and genetic data of 919 participants from the Alzheimer's Disease Neuroimaging Initiative cohort, which include 268 cognitively normal controls, 488 mild cognitive impairment, 163 AD individuals. We performed GWAS with 3,041,429 single nucleotide polymorphisms (SNPs) for cortical thickness. The results of GWAS indicated that rs10109716 in ST18 (ST18 C2H2C-type zinc finger transcription factor) and rs661526 in NFIA (nuclear factor I A) genes are significantly associated with mean cortical thicknesses of the left inferior frontal gyrus and left parahippocampal gyrus, respectively. The rs661526 regulates the expression levels of NFIA in the substantia nigra and frontal cortex and rs10109716 regulates the expression levels of ST18 in the thalamus. These results suggest a crucial role of identified genes for cortical atrophy and could provide further insights into the genetic basis of AD.

919 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

1548
Total Participants
GWAS
Study Type
Yes
Replicated
629 individuals
Replication Participants
European
Ancestry
Chapter IV

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