title: Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
abstract: Population genetic studies on European populations have highlighted Italy as one of genetically most diverse regions. This is possibly due to the country's complex demographic history and large variability in terrain throughout the territory. This is the reason why Italy is enriched for population isolates, Sardinia being the best-known example. As the population isolates have a great potential in disease-causing genetic variants identification, we aimed to genetically characterize a region from northeastern Italy, which is known for isolated communities. Total of 1310 samples, collected from six geographically isolated villages, were genotyped at >145000 single-nucleotide polymorphism positions. Newly genotyped data were analyzed jointly with the available genome-wide data sets of individuals of European descent, including several population isolates. Despite the linguistic differences and geographical isolation the village populations still show the greatest genetic similarity to other Italian samples. The genetic isolation and small effective population size of the village populations is manifested by higher levels of genomic homozygosity and elevated linkage disequilibrium. These estimates become even more striking when the detected substructure is taken into account. The observed level of genetic isolation in Friuli-Venezia Giulia region is more extreme according to several measures of isolation compared with Sardinians, French Basques and northern Finns, thus proving the status of an isolate.
authors.affiliation: Estonian Genome Center, University of Tartu, Tartu, Estonia.
authors.forename: Tõnu
authors.initials: T
authors.lastname: Esko
authors.forename: Massimo
authors.initials: M
authors.lastname: Mezzavilla
authors.forename: Mari
authors.initials: M
authors.lastname: Nelis
authors.forename: Christelle
authors.initials: C
authors.lastname: Borel
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Debniak
authors.forename: Eveliina
authors.initials: E
authors.lastname: Jakkula
authors.forename: Antonio
authors.initials: A
authors.lastname: Julia
authors.forename: Sena
authors.initials: S
authors.lastname: Karachanak
authors.forename: Andrey
authors.initials: A
authors.lastname: Khrunin
authors.forename: Peter
authors.initials: P
authors.lastname: Kisfali
authors.forename: Veronika
authors.initials: V
authors.lastname: Krulisova
authors.forename: Zita
authors.initials: Z
authors.lastname: Aušrelé Kučinskiené
authors.forename: Karola
authors.initials: K
authors.lastname: Rehnström
authors.forename: Michela
authors.initials: M
authors.lastname: Traglia
authors.forename: Liene
authors.initials: L
authors.lastname: Nikitina-Zake
authors.forename: Fritz
authors.initials: F
authors.lastname: Zimprich
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: Xavier
authors.initials: X
authors.lastname: Estivill
authors.forename: Damjan
authors.initials: D
authors.lastname: Glavač
authors.forename: Ivo
authors.initials: I
authors.lastname: Gut
authors.forename: Janis
authors.initials: J
authors.lastname: Klovins
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
authors.forename: Vaidutis
authors.initials: V
authors.lastname: Kučinskas
authors.forename: Mark
authors.initials: M
authors.lastname: Lathrop
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Sara
authors.initials: S
authors.lastname: Marsal
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
authors.forename: Svetlana
authors.initials: S
authors.lastname: Limborska
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Aarno
authors.initials: A
authors.lastname: Paolotie
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Draga
authors.initials: D
authors.lastname: Toncheva
authors.forename: Daniela
authors.initials: D
authors.lastname: Toniolo
authors.forename: H-Erich
authors.initials: HE
authors.lastname: Wichmann
authors.forename: Alexander
authors.initials: A
authors.lastname: Zimprich
authors.forename: Mait
authors.initials: M
authors.lastname: Metspalu
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Andres
authors.initials: A
authors.lastname: Metspalu
authors.forename: Pio
authors.initials: P
authors.lastname: D'Adamo
mesh_terms: D016000:Cluster Analysis; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium / Q000235:genetics; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044465:White People / Q000235:genetics*