(Q35105445)

6 August 2017

title

Inactivating mutations in NPC1L1 and protection from coronary heart disease (English)

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6 August 2017

main subject

coronary artery disease

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27

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59

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Hugh Christian Watkins

69

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63

Heribert Schunkert

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Eric Boerwinkle

75

Eric Boerwinkle

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Donna Muzny

41

Donna Muzny

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Jeanette Erdmann

62

Jeanette Erdmann

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Stacey Gabriel

76

Stacey Gabriel

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74

Eric S Lander

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26

G Kees Hovingh

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Nathan O Stitziel

2

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Pradeep Natarajan

Pradeep Natarajan

39

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Themistocles L Assimes

Themistocles L Assimes

22

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Hong-Hee Won

Hong-Hee Won

3

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Rosanna Asselta

Rosanna Asselta

16

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Alanna Morrison

Alanna C Morrison

4

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Stefano Duga

Stefano Duga

10

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Roberto Elosua

Roberto Elosua

66

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Inke R. König

Inke König

15

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Muredach P. Reilly

Muredach Reilly

23

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Colin Palmer

Colin Palmer

58

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Jerome I Rotter

32

Jerome I Rotter

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Paola Ferrario

14

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Jaume Marrugat

Jaume Marrugat

65

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Adnan Kastrati

29

Adnan Kastrati

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30

Karl-Ludwig Laugwitz

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13

Danish Saleheen

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77

Sekar Kathiresan

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72

David Altshuler

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31

David Siscovick

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48

Julie E Buring

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Paul M Ridker

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50

Daniel I Chasman

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71

James G Wilson

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64

John Danesh

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25

Daniel J Rader

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56

Joshua C Denny

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Anuj Goel

11

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ORCID Public Data File 2021

Thorsten Kessler

Thorsten Kessler

28

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ORCID Public Data File 2021

Deborah A Nickerson

47

Deborah A Nickerson

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6 August 2017

Christie M. Ballantyne

42

Christie Ballantyne

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57

Dan M Roden

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45

Goncalo Abecasis

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52

Iftikhar J Kullo

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51

Erin Austin

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53

Peter E Weeke

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21

Paul Auer

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9

Namrata Gupta

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5

Gina M Peloso

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55

Lisa A Bastarache

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12

Martin Farrall

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17

Piera A Merlini

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18

Nicola Marziliano

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20

Ursula Schick

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67

Diego Ardissino

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68

Ruth McPherson

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36

John Spertus

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7

Leslie A Lange

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34

Russell Tracy

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6 August 2017

Christopher J O'Donnell

44

Christopher J O'Donnell

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35

Sharon Cresci

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40

Jacy Crosby

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43

Stephen S Rich

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38

Stephen M Schwartz

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73

Richard A Gibbs

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Maria Francesca Notarangelo

6 August 2017

19

Maria Francesca Notarangelo

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6 August 2017

8

Pierre Fontanillas

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6 August 2017

author name string

Myocardial Infarction Genetics Consortium Investigators

1

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6 August 2017

Ron Do

6

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6 August 2017

Robert Wilensky

24

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6 August 2017

Stanely L Hazen

33

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6 August 2017

Rebecca Jackson

37

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6 August 2017

Shamil Sunaev

46

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6 August 2017

Christian M Shaffer

54

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6 August 2017

Dan-Yu Lin

60

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6 August 2017

Zheng-zheng Tang

61

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6 August 2017

Alex P Reiner

70

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6 August 2017

language of work or name

English

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publication date

12 November 2014

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The New England Journal of Medicine

6 August 2017

published in

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6 August 2017

volume

371

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6 August 2017

issue

22

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6 August 2017

page(s)

2072-2082

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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

APOC3, coronary disease, and complexities of Mendelian randomization.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Guidelines for investigating causality of sequence variants in human disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

An electronic medical record-linked biorepository to identify novel biomarkers for atherosclerotic cardiovascular disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Searching for missing heritability: designing rare variant association studies

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Validating therapeutic targets through human genetics

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Emphasizing the burden of proof: The American College of Cardiology 2008 Expert Panel Comments on the ENHANCE Trial

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

NPC1L1 and cholesterol transport

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Genetic variants associated with Lp(a) lipoprotein level and coronary disease.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Curses--winner's and otherwise--in genetic epidemiology

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Development of a large-scale de-identified DNA biobank to enable personalized medicine.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Simvastatin with or without ezetimibe in familial hypercholesterolemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Rationale, design, and methodology of the Women's Genome Health Study: a genome-wide association study of more than 25,000 initially healthy american women

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

A common allele on chromosome 9 associated with coronary heart disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The Jackson Heart Study: an overview.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The target of ezetimibe is Niemann-Pick C1-Like 1 (NPC1L1)

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Paraoxonase1-192 polymorphism modulates the nonfatal myocardial infarction risk associated with decreased HDLs

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Design of the Women's Health Initiative clinical trial and observational study. The Women's Health Initiative Study Group

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Rationale and design of IMPROVE-IT (IMProved Reduction of Outcomes: Vytorin Efficacy International Trial): comparison of ezetimbe/simvastatin versus simvastatin monotherapy on cardiovascular outcomes in patients with acute coronary syndromes

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Niemann-Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Inhibition of intestinal cholesterol absorption by ezetimibe in humans

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The plasma concentration and LDL-C relationship in patients receiving ezetimibe

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

27 September 2018

Identifiers

DOI

10.1056/NEJMOA1405386

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6 August 2017

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6 August 2017

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