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Updated: Mar 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Identification of single nucleotide polymorphisms in centenarians]
Juan Gambini1, Lucía Gimeno-Mallench1, Marta Inglés2
1Departamento de Fisiología, Facultad de Medicina, Universitat de València/INCLIVA, Valencia, España.
Genetic variations influence extreme longevity. Researchers identified five key genes in centenarians that regulate gene expression, potentially aiding adaptation to environmental changes and promoting a longer lifespan.
Area of Science:
- Genetics
- Gerontology
- Molecular Biology
Background:
- Longevity is influenced by genetic and environmental factors.
- Genetic variations, such as single nucleotide polymorphisms (SNPs), contribute to individual differences in lifespan.
- SNPs are common genetic variations found in a small percentage of the population.
Purpose of the Study:
- To identify single nucleotide polymorphisms (SNPs) associated with extreme longevity in centenarians.
- To investigate genetic variations that may differentiate centenarians from control groups.
Main Methods:
- Recruited 92 participants: 28 centenarians and 64 controls.
- Collected blood samples for DNA isolation and amplification.
- Analyzed SNPs using Affymetrix Axiom™ Genotyping technology and statistical software (Plink, SNPassoc, skatMeta).
Main Results:
- Identified 12 significant mutations (p < .001).
- Five specific genes (DACH1, LOC91948, BTB16, NFIL3, HDAC4) showed significant associations.
- These five genes possess regulatory functions impacting the expression of other genes.
Conclusions:
- Genetic variations in five regulatory genes distinguish centenarians from controls.
- These genes may play a role in adapting to environmental changes, contributing to extreme longevity.
- Highlights the importance of genetic factors in exceptional lifespan.
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