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-26821421 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://cris.maastrichtuniversity.nl/en/publications/504bc46a-e34e-433d-9395-13c7ffa762c9 |
