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Surakka, I.* ; Horikoshi, M.* ; Mägi, R.* ; Sarin, A.P.* ; Mahajan, A.* ; Lagou, V.* ; Marullo, L.* ; Ferreira, T.* ; Miraglio, B.* ; Timonen, S.* ; Kettunen, J.* ; Pirinen, M.* ; Karjalainen, J.* ; Thorleifsson, G.* ; Hägg, S.* ; Hottenga, J.J.* ; Isaacs, A.* ; Ladenvall, C.* ; Beekman, M.* ; Esko, T.* ; Ried, J.S. ; Nelson, C.P.* ; Willenborg, C.* ; Gustafsson, S.* ; Westra, H.J.* ; Blades, M.* ; de Craen, A.J.* ; de Geus, E.J.* ; Deelen, J.* ; Grallert, H. ; Hamsten, A.* ; Havulinna, A.S.* ; Hengstenberg, C.* ; Houwing-Duistermaat, J.J.* ; Hyppönen, E.* ; Karssen, L.C.* ; Lehtimäki, T.* ; Lyssenko, V.* ; Magnusson, P.K.* ; Mihailov, E.* ; Müller-Nurasyid, M. ; Mpindi, J.P.* ; Pedersen, N.L.* ; Penninx, B.W.* ; Perola, M.* ; Pers, T.H.* ; Peters, A. ; Rung, J.* ; Smit, J.H.* ; Steinthorsdottir, V.* ; Tobin, M.D.* ; Tsernikova, N.* ; van Leeuwen, E.M.* ; Viikari, J.S.* ; Willems, S.M.* ; Willemsen, G.* ; Schunkert, H.* ; Erdmann, J.* ; Samani, N.J.* ; Kaprio, J.* ; Lind, L.* ; Gieger, C. ; Metspalu, A.* ; Slagboom, P.E.* ; Groop, L.* ; van Duijn, C.M.* ; Eriksson, J.G.* ; Jula, A.* ; Salomaa, V.* ; Boomsma, D.I.* ; Power, C.* ; Raitakari, O.T.* ; Ingelsson, E.* ; Jarvelin, M.R.* ; Thorsteinsdottir, U.* ; Franke, L.* ; Ikonen, E.* ; Kallioniemi, O.* ; Pietiäinen, V.* ; Lindgren, C.M.* ; Stefansson, K.* ; Palotie, A.* ; McCarthy, M.I.* ; Morris, A.P.* ; Prokopenko, I.* ; Ripatti, S.*

The impact of low-frequency and rare variants on lipid levels.

Nat. Genet. 47, 589-597 (2015)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs with established function in lipid genetics (CELSR2, GCKR, LIPC and APOE) or candidate missense mutations with predicted damaging function (CD300LG and TM6SF2) explained the locus associations. The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol. Altogether, our results highlight the impact of low-frequency variants in complex traits and show that imputation offers a cost-effective alternative to resequencing.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association; In-vitro; Heterogeneity; Expression; Sialomucin; Sequence; Disease; Glucose; Genes; Liver
Language english
Publication Year 2015
HGF-reported in Year 2015
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 47, Issue: 6, Pages: 589-597 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504100-001
G-504091-002
G-504091-004
G-504000-001
PubMed ID 25961943
DOI 10.1038/ng.3300
WOS ID WOS:000355386500009
Scopus ID 84930090376
Erfassungsdatum 2015-05-13
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