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GWAS Study

Identification of healthspan-promoting genes in Caenorhabditis elegans based on a human GWAS study.

Saul N, Dhondt I, Kuokkanen M et al.

35748965 PubMed ID
GWAS Study Type
2252 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SN
Saul N
DI
Dhondt I
KM
Kuokkanen M
PM
Perola M
VC
Verschuuren C
WB
Wouters B
VC
von Chrzanowski H
DV
De Vos WH
TL
Temmerman L
LW
Luyten W
ZA
Zečić A
LT
Loier T
SC
Schmitz-Linneweber C
BB
Braeckman BP
Chapter II

Abstract

Summary of the research findings

To find drivers of healthy ageing, a genome-wide association study (GWAS) was performed in healthy and unhealthy older individuals. Healthy individuals were defined as free from cardiovascular disease, stroke, heart failure, major adverse cardiovascular event, diabetes, dementia, cancer, chronic obstructive pulmonary disease (COPD), asthma, rheumatism, Crohn's disease, malabsorption or kidney disease. Six single nucleotide polymorphisms (SNPs) with unknown function associated with ten human genes were identified as candidate healthspan markers. Thirteen homologous or closely related genes were selected in the model organism C. elegans for evaluating healthspan after targeted RNAi-mediated knockdown using pathogen resistance, muscle integrity, chemotaxis index and the activity of known longevity and stress response pathways as healthspan reporters. In addition, lifespan was monitored in the RNAi-treated nematodes. RNAi knockdown of yap-1, wwp-1, paxt-1 and several acdh genes resulted in heterogeneous phenotypes regarding muscle integrity, pathogen resistance, chemotactic behaviour, and lifespan. Based on these observations, we hypothesize that their human homologues WWC2, CDKN2AIP and ACADS may play a role in health maintenance in the elderly.

750 Finnish ancestry healthy elderly cases, 1,502 Finnish ancestry unhealthy elderly controls

Chapter III

Study Statistics

Key metrics and study information

2252
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Finland
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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