Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1038/ncomms6345 (literal)

Alternative label

• Panoutsopoulou, Kalliope; Hatzikotoulas, Konstantinos; Xifara, Dionysia Kiara; Colonna, Vincenza; Farmaki, Aliki-Eleni; Ritchie, Graham R. S.; Southam, Lorraine; Gilly, Arthur; Tachmazidou, Ioanna; Fatumo, Segun; Matchan, Angela; Rayner, Nigel W.; Ntalla, Ioanna; Mezzavilla, Massimo; Chen, Yuan; Kiagiadaki, Chrysoula; Zengini, Eleni; Mamakou, Vasiliki; Athanasiadis, Antonis; Giannakopoulou, Margarita; Kariakli, Vassiliki-Eirini; Nsubuga, Rebecca N.; Karabarinde, Alex; Sandhu, Manjinder; McVean, Gil; Tyler-Smith, Chris; Tsafantakis, Emmanouil; Karaleftheri, Maria; Xue, Yali; Dedoussis, George; Zeggini, Eleftheria (2014)
  Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants
  in Nature communications
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Panoutsopoulou, Kalliope; Hatzikotoulas, Konstantinos; Xifara, Dionysia Kiara; Colonna, Vincenza; Farmaki, Aliki-Eleni; Ritchie, Graham R. S.; Southam, Lorraine; Gilly, Arthur; Tachmazidou, Ioanna; Fatumo, Segun; Matchan, Angela; Rayner, Nigel W.; Ntalla, Ioanna; Mezzavilla, Massimo; Chen, Yuan; Kiagiadaki, Chrysoula; Zengini, Eleni; Mamakou, Vasiliki; Athanasiadis, Antonis; Giannakopoulou, Margarita; Kariakli, Vassiliki-Eirini; Nsubuga, Rebecca N.; Karabarinde, Alex; Sandhu, Manjinder; McVean, Gil; Tyler-Smith, Chris; Tsafantakis, Emmanouil; Karaleftheri, Maria; Xue, Yali; Dedoussis, George; Zeggini, Eleftheria (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 5 (literal)

Rivista

• Nature communications (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 11 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Wellcome Trust Sanger Institute; University of Oxford; University of Oxford; Istituto di Genetica e Biofisica \"ABT\" Consiglio Nazionale delle Ricerche (CNR); Harokopio University Athens; European Molecular Biology Laboratory (EMBL); FMST; University of Cambridge; University of Oxford; University of Leicester; University of Trieste; Anogia Med Ctr; Dromokaiteio Psychiat Hosp Athens; University of Sheffield; Athens Medical School; Echinos Med Ctr; University of Athens; Uganda Virus Research Institute (literal)

Titolo

• Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants (literal)

Abstract

• Isolated populations are emerging as a powerful study design in the search for low-frequency and rare variant associations with complex phenotypes. Here we genotype 2,296 samples from two isolated Greek populations, the Pomak villages (HELIC-Pomak) in the North of Greece and the Mylopotamos villages (HELIC-MANOLIS) in Crete. We compare their genomic characteristics to the general Greek population and establish them as genetic isolates. In the MANOLIS cohort, we observe an enrichment of missense variants among the variants that have drifted up in frequency by more than fivefold. In the Pomak cohort, we find novel associations at variants on chr11p15.4 showing large allele frequency increases (from 0.2% in the general Greek population to 4.6% in the isolate) with haematological traits, for example, with mean corpuscular volume (rs7116019, P = 2.3 x 10(-26)). We replicate this association in a second set of Pomak samples (combined P = 2.0 x 10(-36)). We demonstrate significant power gains in detecting medical trait associations. (literal)

Prodotto di

• Approccio multidisciplinare per la definizione di networks molecolari regolanti tratti ad eredità mendeliana e multifattoriale (SV.P18.005.001) (Modulo)
• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Autore CNR

• VINCENZA COLONNA (Persona)

Incoming links:

Prodotto

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Approccio multidisciplinare per la definizione di networks molecolari regolanti tratti ad eredità mendeliana e multifattoriale (SV.P18.005.001) (Modulo)

Autore CNR di

• VINCENZA COLONNA (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Nature communications (Rivista)