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Genetic Signatures of Exceptional Longevity Revisited

Today we published a paper titled “Genetic Signatures of Exceptional Longevity in Humans,” by lead researchers Paola Sebastiani and Thomas Perls of Boston University, which identifies genetic variants associated with exceptional longevity.

This paper is based on work originally reported in the journal Science in July 2010. The authors voluntarily retracted the Science paper in July 2011 due to various technical concerns, as detailed in the retraction notice:

After online publication of our report ‘Genetic Signatures of Exceptional Longevity in Humans’ (1) we discovered that technical errors in the Illumina 610 array and an inadequate quality control protocol introduced false positive single nucleotide polymorphisms (SNPs) in our findings. An independent laboratory subsequently performed stringent quality control measures, ambiguous SNPs were then removed, and resultant genotype data were validated using an independent platform. We then reanalyzed the reduced data set using the same methodology as in the published paper. We feel the main scientific findings remain supported by the available data: (i) A model consisting of multiple specific SNPs accurately differentiates between centenarians and controls; (ii) genetic profiles cluster into specific signatures; and (iii) signatures are associated with ages of onset of specific age-related diseases and subjects with the oldest ages. However, the specific details of the new analysis change substantially from those originally published online to the point of becoming a new report. Therefore, we retract the original manuscript and will pursue alternative publication of the new findings.

The paper published today is the corrected and peer reviewed version of their findings, with additional authors who independently validated the data and methodology, as well as an additional sample of centenarians used for replication purposes. As stated in the retraction notice, the primary findings remain the same, but the SNPs incorrectly identified in the original study have been removed from the model for predicting longevity.

While we recognize that aspects of this study will attract attention owing to the history and the strong claims made in the paper, the handling editor, Greg Gibson, made the decision that publication is warranted, balancing the extensive peer review and the spirit of PLoS ONE to allow important new results and approaches to be available to the scientific community so long as scientific standards have been met.  We trust that publication will facilitate full evaluation of the study.

1. Sebastiani P, Solovieff N, Puca A, Hartley SW, Melista E, et al. Genetic Signatures of Exceptional Longevity in Humans. Science 10.1126/science.1190532 (2010).

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