Exome sequencing of three cases of familial exceptional longevity

Exceptional longevity (EL) is a rare phenotype that can cluster in families, and co-segregation of genetic variation in these families may point to candidate genes that could contribute to extended lifespan. In this study, for the first time, we have sequenced a total of seven exomes from exceptiona...

Full description

Bibliographic Details
Authors: Cash, T. P., Pita, G., Domínguez, O., Alonso, M. R., Moreno, L. T., Borrás, Carmen, Rodríguez Mañas, Leocadio, Santiago Dorrego, Catalina, Garatachea, Nuria, Lucía Mulas, Alejandro, Avellana, Juan A., Viña, José, González Neira, Anna, Serrano, Manuel
Format: article
Publication Date:2014
Country:España
Institution:Universidad Europea (UEM)
Repository:ABACUS. Repositorio de Producción Científica
Language:English
OAI Identifier:oai:abacus.universidadeuropea.com:11268/4023
Online Access:http://hdl.handle.net/11268/4023
Access Level:Open access
Keyword:Apolipoprotein B
Centenarians
Exome sequencing
Longevity
Rare variants
Genética
Envejecimiento
Ciencia
Description
Summary:Exceptional longevity (EL) is a rare phenotype that can cluster in families, and co-segregation of genetic variation in these families may point to candidate genes that could contribute to extended lifespan. In this study, for the first time, we have sequenced a total of seven exomes from exceptionally long-lived siblings (probands ≥ 103 years and at least one sibling ≥ 97 years) that come from three separate families. We have focused on rare functional variants (RFVs) which have ≤ 1% minor allele frequency according to databases and that are likely to alter gene product function. Based on this, we have identified one candidate longevity gene carrying RFVs in all three families, APOB. Interestingly, APOB is a component of lipoprotein particles together with APOE, and variants in the genes encoding these two proteins have been previously associated with human longevity.

Similar Items