Article
Identification and characterization of two functional variants in the human longevity gene FOXO3.
Nature communications - 12 Dec 2017
Flachsbart Friederike, Dose Janina, Gentschew Liljana, Geismann Claudia, Caliebe Amke, Knecht Carolin, Nygaard Marianne, Badarinarayan Nandini, ElSharawy Abdou, May Sandra, Luzius Anne, Torres Guillermo G, Jentzsch Marlene, Forster Michael, Häsler Robert, Pallauf Kathrin, Lieb Wolfgang, Derbois Céline, Galan Pilar, Drichel Dmitriy, Arlt Alexander, Till Andreas, Krause-Kyora Ben, Rimbach Gerald, Blanché Hélène, Deleuze Jean-François, Christiansen Lene, Christensen Kaare, Nothnagel Michael, Rosenstiel Philip, Schreiber Stefan, Franke Andre, Sebens Susanne, Nebel Almut
Abstract excerpt
FOXO3 is consistently annotated as a human longevity gene. However, functional variants and underlying mechanisms for the association remain unknown. Here, we perform resequencing of the FOXO3 locus and single-nucleotide variant (SNV) genotyping in three European populations. We find two FOXO3 SNVs, rs12206094 and rs4946935, to be most significantly associated with longevity and further characterize them...
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