Article
Germline burden of rare damaging variants negatively affects human healthspan and lifespan.
eLife - 7 Apr 2020
Shindyapina Anastasia V, Zenin Aleksandr A, Tarkhov Andrei E, Santesmasses Didac, Fedichev Peter O, Gladyshev Vadim N
Abstract excerpt
Heritability of human lifespan is 23-33% as evident from twin studies. Genome-wide association studies explored this question by linking particular alleles to lifespan traits. However, genetic variants identified so far can explain only a small fraction of lifespan heritability in humans. Here, we report that the burden of rarest protein-truncating variants (PTVs) in two large cohorts is negatively associated...
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