Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (~35,000 samples) with the population-specific reference panel created by the Genome of The Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci (P value <6.61 × 10(-4)), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted t... Mehr ...

Verfasser:	van Leeuwen, Elisabeth M Karssen, Lennart C Deelen, Joris Isaacs, Aaron Medina-Gomez, Carolina Mbarek, Hamdi Kanterakis, Alexandros Trompet, Stella Postmus, Iris Verweij, Niek van Enckevort, David J Huffman, Jennifer E White, Charles C Feitosa, Mary F Bartz, Traci M Manichaikul, Ani Joshi, Peter K Peloso, Gina M Deelen, Patrick van Dijk, Freerk Willemsen, Gonneke de Geus, Eco J Milaneschi, Yuri Penninx, Brenda W J H Francioli, Laurent C Menelaou, Androniki Pulit, Sara L Rivadeneira, Fernando Hofman, Albert Oostra, Ben A Franco, Oscar H Mateo Leach, Irene Beekman, Marian de Craen, Anton J M Uh, Hae-Won Trochet, Holly Hocking, Lynne J Porteous, David J Sattar, Naveed Packard, Chris J Buckley, Brendan M Brody, Jennifer A Bis, Joshua C Rotter, Jerome I Mychaleckyj, Josyf C Campbell, Harry Duan, Qing Lange, Leslie A Wilson, James F Hayward, Caroline van Duijn, C.
Dokumenttyp:	Artikel
Erscheinungsdatum:	2015
Reihe/Periodikum:	van Leeuwen , E M , Karssen , L C , Deelen , J , Isaacs , A , Medina-Gomez , C , Mbarek , H , Kanterakis , A , Trompet , S , Postmus , I , Verweij , N , van Enckevort , D J , Huffman , J E , White , C C , Feitosa , M F , Bartz , T M , Manichaikul , A , Joshi , P K , Peloso , G M , Deelen , P , van Dijk , F , Willemsen , G , de Geus , E J , Milaneschi , Y , Penninx , B W J H , Francioli , L C , Menelaou , A , Pulit , S L , Rivadeneira , F , Hofman , A , Oostra , B A , Franco , O H , Mateo Leach , I , Beekman , M , de Craen , A J M , Uh , H-W , Trochet , H , Hocking , L J , Porteous , D J , Sattar , N , Packard , C J , Buckley , B M , Brody , J A , Bis , J C , Rotter , J I , Mychaleckyj , J C , Campbell , H , Duan , Q , Lange , L A , Wilson , J F , Hayward , C , Genome of the Netherlands Consortium & van Duijn , C 2015 , ' Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels ' , Nature Communications , vol. 6 , pp. 6065 . https://doi.org/10.1038/ncomms7065
Schlagwörter:	ATP-Binding Cassette Transporters/genetics / Cholesterol/blood / Gene Frequency / Genetic Association Studies / Humans / Mutation / Missense/genetics / Netherlands
Sprache:	Englisch
Permalink:	https://search.fid-benelux.de/Record/base-29186876
Datenquelle:	BASE; Originalkatalog
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Link(s) :	https://cris.maastrichtuniversity.nl/en/publications/504bc46a-e34e-433d-9395-13c7ffa762c9