Медицинская библиотека · Journal of medical genetics · 2016

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 Elisabeth M, Sabo Aniko, Bis Joshua C, Huffman Jennifer E, Manichaikul Ani, Smith Albert V, Feitosa Mary F, Demissie Serkalem, Joshi Peter K, Duan Qing, Marten Jonathan, van Klinken Jan B, Surakka Ida, Nolte Ilja M, Zhang Weihua, Mbarek Hamdi, Li-Gao Ruifang, Trompet Stella, Verweij Niek, Evangelou Evangelos, Lyytikäinen Leo-Pekka, Tayo Bamidele O, Deelen Joris, van der Most Peter J, van der Laan Sander W, Arking Dan E, Morrison Alanna, Dehghan Abbas, Franco Oscar H, Hofman Albert, Rivadeneira Fernando, Sijbrands Eric J, Uitterlinden Andre G, Mychaleckyj Josyf C, Campbell Archie, Hocking Lynne J, Padmanabhan Sandosh, Brody Jennifer A, Rice Kenneth M, White Charles C, Harris Tamara, Isaacs Aaron, Campbell Harry, Lange Leslie A, Rudan Igor, Kolcic Ivana, Navarro Pau, Zemunik Tatijana, Salomaa Veikko, LifeLines Cohort Study, Kooner Angad S, Kooner Jaspal S, Lehne Benjamin, Scott William R, Tan Sian-Tsung, de Geus Eco J, Milaneschi Yuri, Penninx Brenda W J H, Willemsen Gonneke, de Mutsert Renée, Ford Ian, Gansevoort Ron T, Segura-Lepe Marcelo P, Raitakari Olli T, Viikari Jorma S, Nikus Kjell, Forrester Terrence, McKenzie Colin A, de Craen Anton J M, de Ruijter Hester M, CHARGE Lipids Working Group, Pasterkamp Gerard, Snieder Harold, Oldehinkel Albertine J, Slagboom P Eline, Cooper Richard S, Kähönen Mika, Lehtimäki Terho, Elliott Paul, van der Harst Pim, Jukema J Wouter, Mook-Kanamori Dennis O, Boomsma Dorret I, Chambers John C, Swertz Morris, Ripatti Samuli, Willems van Dijk Ko, Vitart Veronique, Polasek Ozren, Hayward Caroline, Wilson James G, Wilson James F, Gudnason Vilmundur, Rich Stephen S, Psaty Bruce M, Borecki Ingrid B, Boerwinkle Eric, Rotter Jerome I, Cupples L Adrienne, van Duijn Cornelia M

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Аннотация

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 ∼60 000 individuals in the discovery stage and ∼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.

Для цитирования: van Leeuwen Elisabeth M, Sabo Aniko, Bis Joshua C, Huffman Jennifer E, Manichaikul Ani, Smith Albert V, Feitosa Mary F, Demissie Serkalem, Joshi Peter K, Duan Qing, Marten Jonathan, van Klinken Jan B, Surakka Ida, Nolte Ilja M, Zhang Weihua, Mbarek Hamdi, Li-Gao Ruifang, Trompet Stella, Verweij Niek, Evangelou Evangelos, Lyytikäinen Leo-Pekka, Tayo Bamidele O, Deelen Joris, van der Most Peter J, van der Laan Sander W, Arking Dan E, Morrison Alanna, Dehghan Abbas, Franco Oscar H, Hofman Albert, Rivadeneira Fernando, Sijbrands Eric J, Uitterlinden Andre G, Mychaleckyj Josyf C, Campbell Archie, Hocking Lynne J, Padmanabhan Sandosh, Brody Jennifer A, Rice Kenneth M, White Charles C, Harris Tamara, Isaacs Aaron, Campbell Harry, Lange Leslie A, Rudan Igor, Kolcic Ivana, Navarro Pau, Zemunik Tatijana, Salomaa Veikko, LifeLines Cohort Study, Kooner Angad S, Kooner Jaspal S, Lehne Benjamin, Scott William R, Tan Sian-Tsung, de Geus Eco J, Milaneschi Yuri, Penninx Brenda W J H, Willemsen Gonneke, de Mutsert Renée, Ford Ian, Gansevoort Ron T, Segura-Lepe Marcelo P, Raitakari Olli T, Viikari Jorma S, Nikus Kjell, Forrester Terrence, McKenzie Colin A, de Craen Anton J M, de Ruijter Hester M, CHARGE Lipids Working Group, Pasterkamp Gerard, Snieder Harold, Oldehinkel Albertine J, Slagboom P Eline, Cooper Richard S, Kähönen Mika, Lehtimäki Terho, Elliott Paul, van der Harst Pim, Jukema J Wouter, Mook-Kanamori Dennis O, Boomsma Dorret I, Chambers John C, Swertz Morris, Ripatti Samuli, Willems van Dijk Ko, Vitart Veronique, Polasek Ozren, Hayward Caroline, Wilson James G, Wilson James F, Gudnason Vilmundur, Rich Stephen S, Psaty Bruce M, Borecki Ingrid B, Boerwinkle Eric, Rotter Jerome I, Cupples L Adrienne, van Duijn Cornelia M. Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.. Journal of medical genetics. 2016. DOI: 10.1136/jmedgenet-2015-103439.

Предметные рубрики MeSH

Angiopoietin-Like Protein 4 Angiopoietins Exons Fasting Female Genome, Human Genome-Wide Association Study Genotype Humans Male Middle Aged Polymorphism, Single Nucleotide

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