Evidence map›Paper›PMID 40763168›Full record

ArticlePloS one2025

Genetic structure of different ethnic populations at the frontotemporal dementia risk loci.

Volodymyr Mavrych, Maryam Alamil, Olena Bolgova, Volodymyr Dvornyk

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Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Volodymyr MavrychCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.ORCID https://orcid.org/0009-0009-1159-4573
Maryam AlamilCollege of Science and General Studies, Alfaisal University, Riyadh, Saudi Arabia.ORCID https://orcid.org/0009-0000-0421-3415
Olena BolgovaCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Volodymyr DvornykCollege of Science and General Studies, Alfaisal University, Riyadh, Saudi Arabia.ORCID https://orcid.org/0000-0002-2535-103X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background and purposeFrontotemporal dementia (FTD) is a devastating neurodegenerative disorder affecting behavior, language, and cognition. It has a complex and still poorly understood genetic basis. The prevalence of FTD and other neurodegenerative disorders varies in populations of different ethnicities. This study aimed to analyze the genetic structure of different ethnic populations at FTD risk loci and provide insights into possible genetic factors underlying the above variation.

methodsThe data of single-nucleotide polymorphisms (in total 32) with genome-wide significance were extracted from the GWAS Database. The individual genotype data were retrieved from the 1000 Genomes Phase 3 Project. We analyzed several standard parameters of population genetic structure and computed a composite polygenic risk score. In total, five major ethnic superpopulations and 26 subpopulations were analyzed.

resultsAll populations were significantly differentiated (P << 10-5) at the FTD risk loci. Ethnic populations manifested clear differences in the enrichment/depletion patterns of the risk alleles as evidenced by heatmaps. The population-specific unweighted genetic risk scores were relatively low and averaged at 0.091 ± 0.078. The scores differed significantly at the super- and subpopulation levels.

conclusionsThe results suggest that the major ethnic groups and their subpopulations differ by the allelic and genotypic structure at the FTD risk loci. This may be one of the key factors explaining the different prevalence of FTD across populations. However, currently available data on the epidemiology and genetics of FTD warrant further research.

Indexed as

EthnicityFrontotemporal DementiaGenetic Predisposition to DiseaseAllelesFemaleGenetics, PopulationGenome-Wide Association StudyGenotypeHumansMalePolymorphism, Single NucleotideRisk Factors

Identifiers

PMID40763168
PMCPMC12324132

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