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A genome-wide association study identifies a novel East Asian–specific locus for dementia with Lewy bodies in Japanese subjects
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A genome-wide association study identifies a novel East Asian–specific locus for dementia with Lewy bodies in Japanese subjects
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Journal Article
A genome-wide association study identifies a novel East Asian–specific locus for dementia with Lewy bodies in Japanese subjects
2025
Overview
Background
Dementia with Lewy bodies (DLB) is the second most common type of degenerative dementia in older patients. As with other multifactorial diseases, the pathogenesis results from interactions of environmental and genetic factors. The genetic basis of DLB is not yet fully understood. Recent genomic analyses of DLB in Caucasian cohorts identified genetic susceptibility loci for DLB, but the comprehensive genomic analysis in Asians was still not performed.
Methods
We conducted a genome-wide association study (GWAS) in Japanese subjects (211 DLB cases and 6113 controls) to clarify the genetic architecture of DLB pathogenesis.
Results
We identified the East Asian–specific
DHTKD1
locus (rs138587229) on chromosome 10 with genome-wide significance (GWS;
P
= 3.27
×
10
–8
) and the
ICOS
/
PARD3B
locus on chromosome 2 with suggestive significance (
P
= 3.95
×
10
–7
) as novel DLB genetic risk loci. We also confirmed the
APOE
locus (rs429358,
P
< 5.0 × 10
–8
), a known risk locus for DLB and Alzheimer’s disease in Caucasians. The
DHTKD1
locus was associated with the gene expression of
SEC61A2
and showed a causal relationship with cholinesterase levels. In a trans-ethnic meta-analysis that included Japanese, UK Biobank, and other Caucasian GWAS, we confirmed the risk for DLB at
APOE
and
SNCA
loci with GWS. Transcriptome-wide association analysis identified
ZNF155
and
ZNF284
in the brain cortex and
GPRIN3
in the substantia nigra as putative causal genes for DLB.
Conclusions
This is the first GWAS for DLB in East Asians, and our findings provide new biological and clinical insights into the pathogenesis of DLB.
Publisher
BioMed Central,Springer Nature B.V,BMC
Subject
/ Aged
/ Biobanks
/ Biomedical and Life Sciences
/ Dementia
/ Disease
/ East Asian People - genetics
/ Expression quantitative trait locus analysis
/ Female
/ Females
/ Genetic Predisposition to Disease
/ Genome-Wide Association Study
/ Genomes
/ Humans
/ Japan
/ Kinases
/ Lewy Body Disease - genetics
/ Male
/ Mutation
/ Polymorphism, Single Nucleotide
