ArticleBMC genetics2019
Genome-wide analysis indicates association between heterozygote advantage and healthy aging in humans.
Article in BMC genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed.
- Regulatory impact of a 5'UTR resident single nucleotide variant on EDN1 gene expression and RNA-protein interactions.Scientific reports · 2026Article
- Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases.Cell and tissue research · 2026Review
- A Balanced Inversion Polymorphism Exhibits a Dominance Reversal at the Gene Expression Level that Depends on Developmental Context.Molecular biology and evolution · 2025Article
- Genomic heterozygosity is associated with a lower risk of osteoarthritis.BMC genomics · 2024Article
- Article
- Factors affecting attitudes toward migrants-An evolutionary approach.American journal of human biology : the official journal of the Human Biology Council · 2021Article
- Glutathione S-Transferase Omega-2 and Transforming Growth Factor-Journal of ophthalmology · 2021Article
- Haematological Indicators of Response to Erythropoietin Therapy in Chronic Renal Failure Patients on Haemodialysis: Impact of Angiotensin-Converting Enzyme rs4343 Gene Polymorphism.Pharmacogenomics and personalized medicine · 2021Article
- Article
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Authors and funding
10 authors.
Funding
Abstract
backgroundGenetic diversity is known to confer survival advantage in many species across the tree of life. Here, we hypothesize that such pattern applies to humans as well and could be a result of higher fitness in individuals with higher genomic heterozygosity.
resultsWe use healthy aging as a proxy for better health and fitness, and observe greater heterozygosity in healthy-aged individuals. Specifically, we find that only common genetic variants show significantly higher excess of heterozygosity in the healthy-aged cohort. Lack of difference in heterozygosity for low-frequency variants or disease-associated variants excludes the possibility of compensation for deleterious recessive alleles as a mechanism. In addition, coding SNPs with the highest excess of heterozygosity in the healthy-aged cohort are enriched in genes involved in extracellular matrix and glycoproteins, a group of genes known to be under long-term balancing selection. We also find that individual heterozygosity rate is a significant predictor of electronic health record (EHR)-based estimates of 10-year survival probability in men but not in women, accounting for several factors including age and ethnicity.
conclusionsOur results demonstrate that the genomic heterozygosity is associated with human healthspan, and that the relationship between higher heterozygosity and healthy aging could be explained by heterozygote advantage. Further characterization of this relationship will have important implications in aging-associated disease risk prediction.
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