Garatachea, NuriaFuku, NoriyukiHe, Zi-HongTian, YeArai, YasumichiAbe, YukikoMiyachi, MotohikoYvert, Thomas PaulVenturini, LetiziaSantiago Dorrego, CatalinaSantos-Lozano, AlejandroRodríguez Romo, GabrielRicevuti, GiovanniHirose, NobuyoshiPareja Galeano, HeliosSanchís-Gomar, FabiánEmanuele, EnzoHirose, NobuyoshiLucía Mulas, Alejandro2015-06-152015-06-152014Garatachea, N., Fuku, N., He, Z. H., Tian, Y., Arai, Y., Abe, Y., ..., & Lucía-Mulas, A. (2014). PTK2 rs7460 and rs7843014 polymorphisms and exceptional longevity: a functional replication study. Rejuvenation Research, 17(5), 430-438.1549168415578577http://hdl.handle.net/11268/3995Focal adhesion is critical for cell survival. The focal adhesion kinase (FAK, or PTK2) is an important component of the human interactome and thus is a potential longevity-related protein. Here we studied the association between two PTK2 gene single-nucleotide polymorphisms (SNPs) (rs7843014, rs7460) and exceptional longevity (EL). In addition to gaining insight into their functionality by determining luciferase gene reporter activity, we studied the genotype/allele frequency of these two SNPs among three different cohorts: (1) Spanish centenarians (n=175, 100-111 years, 144 women) and healthy controls (n=355, 20-50 years, 284 women); (2) Italian centenarians (n=79, 100-104 years, 40 women) and controls (n=316, 29-50 years, 156 women); and (3) Japanese centenarians (n=742, 100-116 years, 623 women) and healthy controls (n=499, 23-59 years, 356 women). Both SNPs had functional significance, with the A allele up-regulating luciferase activity compared to the other allele (rs7460 T allele and rs7843014 C allele, respectively).engjournal article10.1089/rej.2014.1570restricted accessEnvejecimientoGeriatríaEnvejecimientoSalud