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  Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

van Leeuwen, E. M., Sabo, A., Bis, J. C., Huffman, J. E., Manichaikul, A., Smith, A. V., et al. (2016). Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. J Med Genet, 53(7), 441-9. doi:10.1136/jmedgenet-2015-103439.

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https://www.ncbi.nlm.nih.gov/pubmed/27036123 (beliebiger Volltext)
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van Leeuwen, E. M., Autor
Sabo, A., Autor
Bis, J. C., Autor
Huffman, J. E., Autor
Manichaikul, A., Autor
Smith, A. V., Autor
Feitosa, M. F., Autor
Demissie, S., Autor
Joshi, P. K., Autor
Duan, Q., Autor
Marten, J., Autor
van Klinken, J. B., Autor
Surakka, I., Autor
Nolte, I. M., Autor
Zhang, W., Autor
Mbarek, H., Autor
Li-Gao, R., Autor
Trompet, S., Autor
Verweij, N., Autor
Evangelou, E., Autor
Lyytikainen, L. P., AutorTayo, B. O., AutorDeelen, J.1, Autor           van der Most, P. J., Autorvan der Laan, S. W., AutorArking, D. E., AutorMorrison, A., AutorDehghan, A., AutorFranco, O. H., AutorHofman, A., AutorRivadeneira, F., AutorSijbrands, E. J., AutorUitterlinden, A. G., AutorMychaleckyj, J. C., AutorCampbell, A., AutorHocking, L. J., AutorPadmanabhan, S., AutorBrody, J. A., AutorRice, K. M., AutorWhite, C. C., AutorHarris, T., AutorIsaacs, A., AutorCampbell, H., AutorLange, L. A., AutorRudan, I., AutorKolcic, I., AutorNavarro, P., AutorZemunik, T., AutorSalomaa, V., AutorLifeLines Cohort, Study, AutorKooner, A. S., AutorKooner, J. S., AutorLehne, B., AutorScott, W. R., AutorTan, S. T., Autorde Geus, E. J., AutorMilaneschi, Y., AutorPenninx, B. W., AutorWillemsen, G., Autorde Mutsert, R., AutorFord, I., AutorGansevoort, R. T., AutorSegura-Lepe, M. P., AutorRaitakari, O. T., AutorViikari, J. S., AutorNikus, K., AutorForrester, T., AutorMcKenzie, C. A., Autorde Craen, A. J., Autorde Ruijter, H. M., AutorGroup, Charge Lipids Working, AutorPasterkamp, G., AutorSnieder, H., AutorOldehinkel, A. J., AutorSlagboom, P. E., Autor           Cooper, R. S., AutorKahonen, M., AutorLehtimaki, T., AutorElliott, P., Autorvan der Harst, P., AutorJukema, J. W., AutorMook-Kanamori, D. O., AutorBoomsma, D. I., AutorChambers, J. C., AutorSwertz, M., AutorRipatti, S., AutorWillems van Dijk, K., AutorVitart, V., AutorPolasek, O., AutorHayward, C., AutorWilson, J. G., AutorWilson, J. F., AutorGudnason, V., AutorRich, S. S., AutorPsaty, B. M., AutorBorecki, I. B., AutorBoerwinkle, E., AutorRotter, J. I., AutorCupples, L. A., Autorvan Duijn, C. M., Autor mehr..
Affiliations:
1Deelen – Genetics and Biomarkers of Human Ageing, Research Groups, Max Planck Institute for Biology of Ageing, Max Planck Society, ou_3394006              

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Schlagwörter: Angiopoietin-like 4 Protein Angiopoietins/*genetics Exons/*genetics Fasting/physiology Female Genome, Human/*genetics Genome-Wide Association Study/methods Genotype Humans Male Middle Aged Polymorphism, Single Nucleotide/*genetics *Complex traits *Epidemiology *Genetics *Genome-wide *circulating lipid levels
 Zusammenfassung: BACKGROUND: So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels. METHODS: We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from approximately 60 000 individuals in the discovery stage and approximately 90 000 samples in the replication stage. RESULTS: Our study resulted in the identification of five new associations with circulating lipid levels at four loci. All four loci are within genes that can be linked biologically to lipid metabolism. One of the variants, rs116843064, is a damaging missense variant within the ANGPTL4 gene. CONCLUSIONS: This study illustrates that GWAS with high-scale imputation may still help us unravel the biological mechanism behind circulating lipid levels.

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 Datum: 2016-062016-04-03
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: Anderer: 27036123
DOI: 10.1136/jmedgenet-2015-103439
ISSN: 1468-6244 (Electronic)0022-2593 (Linking)
 Art des Abschluß: -

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Titel: J Med Genet
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 53 (7) Artikelnummer: - Start- / Endseite: 441 - 9 Identifikator: -