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

Paola Sebastiani¹*, Alberto Riva², Monty Montano³, Phillip Pham⁴, Ali Torkamani⁴, Eugene Scherba⁵, Gary Benson⁵, Jacqueline N. Milton¹, Clinton T. Baldwin^6,7, Stacy Andersen⁸, Nicholas J. Schork⁴, Martin H. Steinberg⁹ and Thomas T. Perls⁸*

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.

Keywords: whole genome sequence, genetics, longevity, centenarian, supercentenarian, aging
Citation: Sebastiani P, Riva A, Montano M, Pham P, Torkamani A, Scherba E, Benson G, Milton JN, Baldwin CT, Andersen S, Schork NJ, Steinberg MH and Perls TT (2012) Whole genome sequences of a male and female supercentenarian, ages greater than 114 years. Front. Gene. 2:90. doi: 10.3389/fgene.2011.00090

Received: 20 October 2011; Accepted: 04 December 2011;
Published online: 03 January 2012.

Edited by:
Thomas Flatt, Vetmeduni Vienna, Austria

Reviewed by:
Josephine Hoh, Yale University, USA
Stuart Kim, Stanford University, USA

Copyright: © 2012 Sebastiani, Riva, Montano, Pham, Torkamani, Scherba, Benson, Milton, Baldwin, Andersen, Schork, Steinberg and Perls. This is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License, which permits non-commercial use, distribution, and reproduction in other forums, provided the original authors and source are credited.
*Correspondence: Paola Sebastiani, Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Room 317, Boston, MA 02118, USA. e-mail: sebas@bu.edu; Thomas T. Perls, Geriatrics Section, Boston University Medical Campus, 88 E Newton St, Boston, MA 02118, USA. e-mail: thperls@bu.edu

Frontiers Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years Frontiers in Genetics of Aging