The impact of low-frequency and rare variants on lipid levels (Q36591109)

15 August 2017

The impact of low-frequency and rare variants on lipid levels (English)

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15 August 2017

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Marjo-Riitta Järvelin

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Olli-Pekka Kallioniemi

78

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85

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Cornelia M. van Duijn

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Cornelia M van Duijn

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Unnur Þorsteinsdóttir

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Valgerdur Steinthorsdottir

Unnur Thorsteinsdottir

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50

Valgerdur Steinthorsdottir

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Martina Müller-Nurasyid

41

Martina Müller-Nurasyid

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Heribert Schunkert

57

Heribert Schunkert

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Samuli Ripatti

86

Samuli Ripatti

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Terho Lehtimäki

37

Terho Lehtimäki

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Jouke-Jan Hottenga

16

Jouke-Jan Hottenga

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Gonneke Willemsen

56

Gonneke Willemsen

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Andres Metspalu

63

Andres Metspalu

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Jeanette Erdmann

Jeanette Erdmann

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Harm-Jan Westra

25

Harm-Jan Westra

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Harald Grallert

30

Harald Grallert

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1

Ida Surakka

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John-Patrick Mpindi

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Gudmar Thorleifsson

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Lennart C Karssen

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Anubha Mahajan

Anubha Mahajan

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Sara Hägg

Sara Hägg

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Tune H Pers

Tune H Pers

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Marian Beekman

Marian Beekman

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Matti Pirinen

Matti Pirinen

12

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Patrik K E Magnusson

Patrik K E Magnusson

39

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Annette Peters

Annette Peters

47

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Johan G. Eriksson

Johan G Eriksson

67

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Eco de Geus

Eco J de Geus

28

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Markus Perola

45

Markus Perola

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15 August 2017

69

Veikko Salomaa

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15 August 2017

Martin D Tobin

51

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Christopher P Nelson

Christopher P Nelson

Jeanine Houwing-Duistermaat

22

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34

Jeanine J Houwing-Duistermaat

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15 August 2017

Elina Ikonen

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Mark McCarthy

Mark I McCarthy

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Nilesh Samani

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Nilesh J Samani

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15 August 2017

73

Erik Ingelsson

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Aarno Palotie

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Anders Hamsten

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Lars Lind

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Stefan Gustafsson

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Dorret I Boomsma

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Valeriya Lyssenko

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Leif Groop

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Kari Stefansson

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Momoko Horikoshi

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Antti Jula

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Aki S Havulinna

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Olli T Raitakari

1 reference

15 August 2017

40

Evelin Mihailov

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Brenda W J H Penninx

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Johannes Kettunen

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15 August 2017

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P Eline Slagboom

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Juha Karjalainen

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Nancy L Pedersen

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Elina Hyppönen

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15 August 2017

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Anton J M de Craen

1 reference

15 August 2017

4

Antti-Pekka Sarin

1 reference

15 August 2017

7

Letizia Marullo

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Claes Ladenvall

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15 August 2017

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Janina S Ried

1 reference

15 August 2017

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Christina Willenborg

1 reference

15 August 2017

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Jorma S Viikari

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15 August 2017

48

Johan Rung

1 reference

15 August 2017

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Aaron Isaacs

1 reference

15 August 2017

Elisabeth van Leeuwen

53

Elisabeth M van Leeuwen

1 reference

15 August 2017

26

Matthew Blades

1 reference

15 August 2017

Christian Hengstenberg

33

Christian Hengstenberg

1 reference

15 August 2017

29

Joris Deelen

1 reference

15 August 2017

49

Johannes H Smit

1 reference

15 August 2017

6

Vasiliki Lagou

1 reference

15 August 2017

84

Andrew P Morris

1 reference

15 August 2017

8

Teresa Ferreira

1 reference

15 August 2017

55

Sara M Willems

1 reference

15 August 2017

Benjamin Miraglio

9

1 reference

15 August 2017

Sanna Timonen

10

1 reference

15 August 2017

Natalia Tsernikova

52

1 reference

15 August 2017

Christine Power

71

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15 August 2017

Lude Franke

76

1 reference

15 August 2017

Vilja Pietiäinen

79

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15 August 2017

ENGAGE Consortium

87

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15 August 2017

language of work or name

English

0 references

publication date

11 May 2015

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15 August 2017

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15 August 2017

47

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6

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15 August 2017

589-597

1 reference

Defining the role of common variation in the genomic and biological architecture of adult human height

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Meta-analysis of gene-level tests for rare variant association

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Discovery and refinement of loci associated with lipid levels

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Heritability of metabolic syndrome traits in a large population-based sample

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

SMIM1 underlies the Vel blood group and influences red blood cell traits

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

An integrated map of genetic variation from 1,092 human genomes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Predicting the functional effect of amino acid substitutions and indels

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Rare and common variants: twenty arguments

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

GCTA: a tool for genome-wide complex trait analysis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Meta-analysis of sex-specific genome-wide association studies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Biological, clinical and population relevance of 95 loci for blood lipids

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

GWAMA: software for genome-wide association meta-analysis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

A method and server for predicting damaging missense mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

PLINK: a tool set for whole-genome association and population-based linkage analyses

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

A new multipoint method for genome-wide association studies by imputation of genotypes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

CD300 antigen like family member G: A novel Ig receptor like protein exclusively expressed on capillary endothelium

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Nepmucin, a novel HEV sialomucin, mediates L-selectin-dependent lymphocyte rolling and promotes lymphocyte adhesion under flow

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Detection of ApoE E2, E3 and E4 alleles using MALDI-TOF mass spectrometry and the homogeneous mass-extend technology

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Predicting deleterious amino acid substitutions

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Identical Structural and Receptor Binding Defects in Apolipoprotein E2 in Hypo-, Normo-, and Hypercholesterolemic Dysbetalipoproteinemia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Genome-wide association analysis of imputed rare variants: application to seven common complex diseases

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Gene expression analysis identifies global gene dosage sensitivity in cancer.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Specific lipid recognition is a general feature of CD300 and TREM molecules

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4757735

Computational neuroanatomy of speech production

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3300

Nepmucin/CLM-9, an Ig domain-containing sialomucin in vascular endothelial cells, promotes lymphocyte transendothelial migration in vitro

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25961943

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25961943

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25961943

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3300

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

25961943

1 reference