Titre :

Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy

Auteur(s) :

Nutile, T. [Auteur]
Ruggiero, D. [Auteur]
Istituto Neurologico Mediterraneo [NEUROMED I.R.C.C.S.]
Herzig, A. [Auteur]
Variabilité Génétique et Maladies Humaines [U946]
Tirozzi, A. [Auteur]
Istituto Neurologico Mediterraneo [NEUROMED I.R.C.C.S.]
Nappo, S. [Auteur]
AORN Santobono-Pausilipon Hospital [Naples, Italy]
Sorice, R. [Auteur]
Marangio, F. [Auteur]
Bellenguez, C. [Auteur]
Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 [RID-AGE]
Leutenegger, Anne-Louise [Auteur]
Variabilité Génétique et Maladies Humaines [U946]
Ciullo, M. [Auteur]
Istituto Neurologico Mediterraneo [NEUROMED I.R.C.C.S.]

Titre de la revue :

Scientific Reports

Pagination :

4059

Éditeur :

Nature Publishing Group

Date de publication :

2019

ISSN :

2045-2322

Discipline(s) HAL :

Sciences du Vivant [q-bio]/Génétique/Génétique humaine
Sciences du Vivant [q-bio]/Génétique/Génétique des populations [q-bio.PE]

Résumé en anglais : [en]

The present study describes the genetic architecture of the isolated populations of Cilento, through the analysis of exome sequence data of 245 representative individuals of these populations. By annotating the exome ...
Lire la suite >The present study describes the genetic architecture of the isolated populations of Cilento, through the analysis of exome sequence data of 245 representative individuals of these populations. By annotating the exome variants and cataloguing them according to their frequency and functional effects, we identified 347,684 variants, 67.4% of which are rare and low frequency variants, and 1% of them (corresponding to 319 variants per person) are classified as high functional impact variants; also, 39,946 (11.5% of the total) are novel variants, for which we determined a significant enrichment for deleterious effects. By comparing the allele frequencies in Cilento with those from the Tuscan population from the 1000 Genomes Project Phase 3, we highlighted an increase in allele frequency in Cilento especially for variants which map to genes involved in extracellular matrix formation and organization. Furthermore, among the variants showing increased frequency we identified several known rare disease-causing variants. By different population genetics analyses, we corroborated the status of the Cilento populations as genetic isolates. Finally, we showed that exome data of Cilento represents a useful local reference panel capable of improving the accuracy of genetic imputation, thus adding power to genetic studies of human traits in these populations.Lire moins >

Langue :

Anglais

Comité de lecture :

Oui

Audience :

Internationale

Vulgarisation :

Non

Projet ANR :

Développement de stratégies innovantes pour une approche transdisciplinaire de la maladie d'Alzheime

Collections :

• Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement (RID-AGE) - U1167

Source :

Harvested from HAL