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Published on: May 22, 2013
Human longevity and 11p15.5: a study in 1321 centenarians
Francesco Lescai1, Helene Blanché, Almut Nebel
1Centro Interdipartimentale 'L.Galvani' per Studi Integrati di Bioinformatica, Biofisica e Biocomplessità - Alma Mater Studiorum Università di Bologna, Italy. francesco.lescai@unibo.it
This study investigated genetic variations in the 11p15.5 region for human longevity. While previous associations with genes like SIRT3 were not confirmed, six novel single nucleotide polymorphisms (SNPs) showed potential links to longevity.
Area of Science:
- Genetics
- Human Longevity Research
- Population Genetics
Background:
- The 11p15.5 chromosomal region contains genes (HRAS1, SIRT3, TH, INS, IGF2) homologous to those influencing lifespan in model organisms.
- Previous association studies suggested variability in these genes is linked to human longevity.
Purpose of the Study:
- To investigate genetic associations with human longevity in the 11p15.5 chromosomal region.
- To validate or refute previously reported associations between specific genes and centenarian status.
Main Methods:
- Genotyping of 239 single nucleotide polymorphisms (SNPs) across the 11p15.5 region in 1321 European centenarians and 1140 younger controls.
- Meta-analysis of SNP data, including a specific focus on SIRT3 and other markers.
Main Results:
- No significant associations were found for previously implicated loci (TH, IGF2, INS, HRAS1).
- A meta-analysis of SIRT3 SNPs revealed only one significant SNP (rs939915).
- Six novel SNPs (rs4073591, DEAF1-rs4073590, KRTAP5-6-rs11040489, rs4930001, TSPAN32-rs800140, rs16928120) showed significant associations with the frequent genotype.
Conclusions:
- This study did not confirm earlier findings on specific genes related to longevity.
- It highlights the challenges in human longevity genetic studies and the potential for novel associations.
- Dissemination of results from large centenarian cohorts is crucial for future research strategies.
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