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...

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Veröffentlicht in:	Nature communications 2015-03, Vol.6 (1), p.6065-6065, Article 6065
Hauptverfasser:	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., Leach, Irene Mateo, 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, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Adrienne Cupples, L., Jukema, J. Wouter, van der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke-Jan, Uitterlinden, Andre G., Swertz, Morris A., van Ommen, Gert-Jan B., de Bakker, Paul I.W., Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, van Duijn, Cornelia M.
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/205/2138 631/208/457/649/2219 631/45/287 ATP-Binding Cassette Transporters - genetics Cholesterol - blood Gene Frequency Genetic Association Studies Humanities and Social Sciences Humans multidisciplinary Mutation, Missense - genetics Netherlands Science Science (multidisciplinary)
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Zusammenfassung:	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
ISSN:	2041-1723 2041-1723
DOI:	10.1038/ncomms7065