Please use this identifier to cite or link to this item:
Title: Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants
Authors: Panoutsopoulou, K.
Hatzikotoulas, K.
Xifara, D. K.
Colonna, V.
Farmaki, A.-E.
Ritchie, G. R. S.
Southam, L.
Gilly, A.
Tachmazidou, I.
Fatumo, S.
Matchan, A.
Rayner, N. W.
Ntalla, Ioanna
Mezzavilla, M.
Chen, Y.
Kiagiadaki, C.
Zengini, E.
Mamakou, V.
Athanasiadis, A.
Giannakopoulou, M.
Kariakli, V.-E.
Nsubuga, R. N.
Karabarinde, A.
Sandhu, M.
McVean, G.
Tyler-Smith, C.
Tsafantakis, E.
Karaleftheri, M.
Xue, Y.
Dedoussis, G.
Zeggini, E.
First Published: 6-Nov-2014
Publisher: Nature Publishing Group
Citation: Nature Communications 5:5345 (2014)
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 × 10−26). We replicate this association in a second set of Pomak samples (combined P=2.0 × 10−36). We demonstrate significant power gains in detecting medical trait associations.
DOI Link: 10.1038/ncomms6345
eISSN: 2041-1723
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit
Description: Supplementary information is available at
Appears in Collections:Published Articles, Dept. of Health Sciences

Files in This Item:
File Description SizeFormat 
ncomms6345.pdfPublisher version842.83 kBAdobe PDFView/Open

Items in LRA are protected by copyright, with all rights reserved, unless otherwise indicated.