Collagens and elastin genetic variations and their potential role in aging-related diseases and longevity in humans

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#aged #aged-80-and-over #aging #collagen #elastin

Collagens and elastin genetic variations and their potential role in aging-related diseases and longevity in humans

Romero-Ortuno et al., 2020 | Exp Gerontol | Systematic Review

Citation

Romero-Ortuno Roman, Kenny Rose Anne, McManus Ross. Collagens and elastin genetic variations and their potential role in aging-related diseases and longevity in humans. Exp Gerontol. 2020-Jan;129:110781. doi:10.1016/j.exger.2019.110781

Abstract

Collagens and elastin are 'building blocks' of tissues and extracellular matrix. Mutations in these proteins cause severe congenital syndromes. Adverse genetic variations may accelerate the aging process in adults contributing to premature morbidity, disability and/or mortality. Favorable variants may contribute to longevity and/or healthy aging, but this is much less studied. We reviewed the association between variation in the genes of collagens and elastin and premature aging, accelerated aging, age-related diseases and/or frailty; and the association between genetic variation in those and longevity and/or healthy aging in humans. A systematic search was conducted in MEDLINE and other online databases (OMIM, Genetics Home Reference, Orphanet, ClinVar). Results suggest that genetic variants lead to aging phenotypes of known congenital disease, but also to association with common age-related diseases in adults without known congenital disease. This may be due to the variable penetrance and expressivity of many variants. Some collagen variants have been associated with longevity or healthy aging. A limitation is that most studies had <1000 participants and their criterion for statistical significance was p < 0.05. Results highlight the importance of adopting a lifecourse approach to the study of the genomics of aging. Gerontology can help with new methodologies that operationalize biological aging.

Key Findings

Gerontology can help with new methodologies that operationalize biological aging.

Outcomes Measured

  • Requires manual extraction

Population

Field Value
Population See abstract
Sample Size 1000
Age Range See abstract
Condition See abstract

MeSH Terms

  • Aged
  • Aged, 80 and over
  • Aging
  • Collagen
  • Elastin
  • Frail Elderly
  • Frailty
  • Genetic Variation
  • Healthy Aging
  • Humans
  • Longevity
  • Phenotype

Evidence Classification

  • Level: Systematic Review
  • Publication Types: Journal Article, Research Support, Non-U.S. Gov't, Systematic Review
  • Vertical: collagen

Provenance

Source extracted via PubMed E-utilities API on 2026-04-09