Details

Autor(en) / Beteiligte

• Gierman, Hinco J
• Fortney, Kristen
• Roach, Jared C
• Coles, Natalie S
• Li, Hong
• Glusman, Gustavo
• Markov, Glenn J
• Smith, Justin D
• Hood, Leroy
• Coles, L Stephen
• Kim, Stuart K
• Lewis, Patrick

Titel

Whole-genome sequencing of the world's oldest people

Ist Teil von

• PloS one, 2014-11, Vol.9 (11), p.e112430-e112430

Ort / Verlag

United States: Public Library of Science

Erscheinungsjahr

2014

Quelle

MEDLINE

Beschreibungen/Notizen

• Supercentenarians (110 years or older) are the world's oldest people. Seventy four are alive worldwide, with twenty two in the United States. We performed whole-genome sequencing on 17 supercentenarians to explore the genetic basis underlying extreme human longevity. We found no significant evidence of enrichment for a single rare protein-altering variant or for a gene harboring different rare protein altering variants in supercentenarian compared to control genomes. We followed up on the gene most enriched for rare protein-altering variants in our cohort of supercentenarians, TSHZ3, by sequencing it in a second cohort of 99 long-lived individuals but did not find a significant enrichment. The genome of one supercentenarian had a pathogenic mutation in DSC2, known to predispose to arrhythmogenic right ventricular cardiomyopathy, which is recommended to be reported to this individual as an incidental finding according to a recent position statement by the American College of Medical Genetics and Genomics. Even with this pathogenic mutation, the proband lived to over 110 years. The entire list of rare protein-altering variants and DNA sequence of all 17 supercentenarian genomes is available as a resource to assist the discovery of the genetic basis of extreme longevity in future studies.