Whole genome sequences of a male and female supercentenarian, ages greater than 114 years

• ¹ Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
• ² Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA
• ³ Division Infectious Diseases, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
• ⁴ The Scripps Research Institute and the Scripps Translational Science Institute, La Jolla, CA, USA
• ⁵ Department of Computer Science, Boston University, Boston, MA, USA
• ⁶ Department of Medicine, Boston Medical Center, Boston University School of Medicine, Boston, MA, USA
• ⁷ Department of Pediatrics, Boston Medical Center, Boston University School of Medicine, Boston, MA, USA
• ⁸ Geriatrics Section, Department of Medicine, Boston Medical Center, Boston University School of Medicine, Boston, MA, USA
• ⁹ Hematology Division, Department of Medicine, Boston Medical Center, Boston University School of Medicine, Boston, MA, USA

Supercentenarians (age 110+ years old) generally delay or escape age-related diseases and disability well beyond the age of 100 and this exceptional survival is likely to be influenced by a genetic predisposition that includes both common and rare genetic variants. In this report, we describe the complete genomic sequences of male and female supercentenarians, both age >114 years old. We show that: (1) the sequence variant spectrum of these two individuals’ DNA sequences is largely comparable to existing non-supercentenarian genomes; (2) the two individuals do not appear to carry most of the well-established human longevity enabling variants already reported in the literature; (3) they have a comparable number of known disease-associated variants relative to most human genomes sequenced to-date; (4) approximately 1% of the variants these individuals possess are novel and may point to new genes involved in exceptional longevity; and (5) both individuals are enriched for coding variants near longevity-associated variants that we discovered through a large genome-wide association study. These analyses suggest that there are both common and rare longevity-associated variants that may counter the effects of disease-predisposing variants and extend lifespan. The continued analysis of the genomes of these and other rare individuals who have survived to extremely old ages should provide insight into the processes that contribute to the maintenance of health during extreme aging.