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Human lifespan and genes: new insights from the UK Biobank exome study
A study of gene variants connected with longevity was performed on an unprecedented dataset of over 500,000 participants
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The interplay of genetic factors and longevity has been the subject of extensive studies. Recent large-scale genome-wide association studies (GWAS) further support the importance of genetic factors and have identified more than 20 loci (specific gene location on a chromosome) linked to the human lifespan. GWAS are able to associate common genetic variants to the risks of diseases and lifespan, but they usually lack the power to identify causal links and detect the influence of rarer genetic variants.
The more precise approach towards genetic data analysis is focused on the exome – the proportion of the genome that encodes functional proteins. Unlike GWAS, the exome-wide studies allow establishing the influence of rare gene variants, including protein-truncating variants (PTVs). PTVs are genetic variants that result in a production of a shorter version of a protein, which often leads to a loss of their function.
Runz and colleagues employed the UK Biobank (UKB) – an unprecedented dataset of over 500,000 participants with detailed health and lifestyle information – to perform a study of gene variants connected with longevity. Additionally, they have complemented the UKB with exome-sequencing results. The researchers tested how exome-wide PTVs (and each PTV in each gene individually) affect the lifespan of over 350,000 UKB participants and their parents.
The analysis identified four genes in which the burden of PTVs influenced lifespan at the population level: BRCA2 (breast cancer 2), BRCA1 (breast cancer 1), TET2 (ten-eleven translocation 2 methylcytosine dioxygenase 2), and ATM (ataxia-telangiectasia mutated). All these genes have been previously linked with various cancers. Interestingly, these results only partially overlap with lifespan-associated GWAS loci. Runz et al. suggested that discovered PTVs can be further used as targets for therapeutic interventions.
As the GWAS and exome-wide studies have only limited overlap, the additional rare-variant analyses can further enrich our understanding of the genetic basis of traits, diseases, and longevity. The authors, however, warn against the overgeneralization of the obtained results as the demographics of the UKB are limited mainly to the individuals of white European origin and might not translate to all populations. In their future work, they intend to replicate these results in an even larger and more diverse cohort to obtain more knowledge of the genetic basis of aging.
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The interplay of genetic factors and longevity has been the subject of extensive studies. Recent large-scale genome-wide association studies (GWAS) further support the importance of genetic factors and have identified more than 20 loci (specific gene location on a chromosome) linked to the human lifespan. GWAS are able to associate common genetic variants to the risks of diseases and lifespan, but they usually lack the power to identify causal links and detect the influence of rarer genetic variants.
The more precise approach towards genetic data analysis is focused on the exome – the proportion of the genome that encodes functional proteins. Unlike GWAS, the exome-wide studies allow establishing the influence of rare gene variants, including protein-truncating variants (PTVs). PTVs are genetic variants that result in a production of a shorter version of a protein, which often leads to a loss of their function.
Runz and colleagues employed the UK Biobank (UKB) – an unprecedented dataset of over 500,000 participants with detailed health and lifestyle information – to perform a study of gene variants connected with longevity. Additionally, they have complemented the UKB with exome-sequencing results. The researchers tested how exome-wide PTVs (and each PTV in each gene individually) affect the lifespan of over 350,000 UKB participants and their parents.
The analysis identified four genes in which the burden of PTVs influenced lifespan at the population level: BRCA2 (breast cancer 2), BRCA1 (breast cancer 1), TET2 (ten-eleven translocation 2 methylcytosine dioxygenase 2), and ATM (ataxia-telangiectasia mutated). All these genes have been previously linked with various cancers. Interestingly, these results only partially overlap with lifespan-associated GWAS loci. Runz et al. suggested that discovered PTVs can be further used as targets for therapeutic interventions.
As the GWAS and exome-wide studies have only limited overlap, the additional rare-variant analyses can further enrich our understanding of the genetic basis of traits, diseases, and longevity. The authors, however, warn against the overgeneralization of the obtained results as the demographics of the UKB are limited mainly to the individuals of white European origin and might not translate to all populations. In their future work, they intend to replicate these results in an even larger and more diverse cohort to obtain more knowledge of the genetic basis of aging.
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Dr. Ana Baroni MD. Ph.D.
Scientific & Medical Advisor
Quality Garant
Ana has over 20 years of consultancy experience in longevity, regenerative and precision medicine. She has a multifaceted understanding of genomics, molecular biology, clinical biochemistry, nutrition, aging markers, hormones and physical training. This background allows her to bridge the gap between longevity basic sciences and evidence-based real interventions, putting them into the clinic, to enhance the healthy aging of people. She is co-founder of Origen.life, and Longevityzone. Board member at Breath of Health, BioOx and American Board of Clinical Nutrition. She is Director of International Medical Education of the American College of Integrative Medicine, Professor in IL3 Master of Longevity at Barcelona University and Professor of Nutrigenomics in Nutrition Grade in UNIR University.
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