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.

胶原蛋白和弹性蛋白是组织和细胞外基质的“基石”。这些蛋白质的突变会导致严重的先天性综合症。不良的遗传变异可能会加速成年人的衰老过程，从而导致过早发病，致残和/或死亡。有利的变体可能有助于延年益寿和/或健康衰老，但这方面的研究还很少。我们审查了胶原蛋白和弹性蛋白基因的变异与过早衰老，加速衰老，与年龄有关的疾病和/或虚弱之间的关联；以及这些人的遗传变异与人类寿命和/或健康衰老之间的关联。在MEDLINE和其他在线数据库（OMIM，Genetics Home Reference，Orphanet，ClinVar）中进行了系统的搜索。结果表明，遗传变异会导致已知先天性疾病的衰老表型，而且还会与没有已知先天性疾病的成年人的常见年龄相关疾病相关。这可能是由于许多变体的渗透性和表达能力可变所致。一些胶原蛋白变体与长寿或健康衰老有关。局限性在于，大多数研究的参与者<1000，其统计学显着性标准为p  <0.05。结果强调了采用生命过程方法研究衰老的基因组学的重要性。老年病学可以借助可实现生物衰老的新方法来提供帮助。