Evidence map›Paper›PMID 23524007›Full record

ArticleGene2013

Multi-allelic haplotype association identifies novel information different from single-SNP analysis: a new protective haplotype in the LRP8 gene is against familial and early-onset CAD and MI.

Gong-Qing Shen, Domenico Girelli, Lin Li, Oliviero Olivieri, Nicola Martinelli, Qiuyun Chen, Eric J Topol, Qing K Wang

Abstract read
In one paragraph

Article in Gene, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.4field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Review
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  4. Article
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  6. Article
  7. Review
  8. Genetic variants of ApoE and ApoER2 differentially modulate endothelial function.Proceedings of the National Academy of Sciences of the United States of America · 2014
    Article
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  10. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 2 countries.

Gong-Qing ShenDepartment of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, USA.
Domenico Girelli
Lin Li
Oliviero Olivieri
Nicola Martinelli
Qiuyun Chen
Eric J Topol
Qing K Wang
Cleveland Clinic Lerner College of Medicine · USUniversity of Verona · ITCleveland Clinic · USScripps Research Institute · US

Funding

X-LINKED EXTENSION OF THE REVISED HASEMAN-ELSTON ALGORITHM FOR LINKAGE ANALYSISP41RR003655 · NCRR · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ELSTON, ROBERT C. · 1987 to 2011
$11.5M
Novel Role of a Nucleoporin Gene in Atrial Fibrillation, the Most Common CardiacR01HL094498 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI WANG, QING KENNETH · 2010 to 2013
$1.5M
Molecular Determinants of Coronary Artery DiseaseR01HL073817 · NHLBI · CLEVELAND CLINIC LERNER COL/MED-CWRU · PI WANG, QING KENNETH · 2004 to 2004
$189k
NCRR NIH HHS P41 RR003655NHLBI NIH HHS R01 HL073817NHLBI NIH HHS R01 HL094498
6 · The paper itself

Abstract

Our previous studies identified a functional SNP, R952Q in the LRP8 gene, that was associated with increased platelet activation and familial and early-onset coronary artery disease (CAD) and myocardial infarction (MI) in American and Italian Caucasian populations. In this study, we analyzed four additional SNPs near R952Q (rs7546246, rs2297660, rs3737983, rs5177) to identify a specific LRP8 SNP haplotype that is associated with familial and early-onset CAD and MI. We employed a case-control association design involving 381 premature CAD and MI probands and 560 controls in GeneQuest, 441 individuals from 22 large pedigrees in GeneQuest II, and 248 MI patients with family history and 308 controls in an Italian cohort. Like R952Q, LRP8 SNPs rs7546246, rs2297660, rs3737983, and rs5177 were significantly associated with early-onset CAD/MI in both population-based and family-based association studies in GeneQuest. The results were replicated in the GeneQuest II family-based population and the Italian population. We then carried out a haplotype analysis for all five SNPs including R952Q. One common haplotype (TCCGC) was significantly associated with CAD (P=4.0×10(-11)) and MI (P=6.5×10(-12)) in GeneQuest with odds ratios of 0.53 and 0.42, respectively. The results were replicated in the Italian cohort (P=0.004, OR=0.71). The sib-TDT analysis also showed significant association between the TCCGC haplotype and CAD in GeneQuest II (P=0.001). These results suggest that a common LRP8 haplotype TCCGC confers a significant protective effect on the development of familial, early-onset CAD and/or MI.

Indexed as

Polymorphism, Single NucleotideAge of OnsetCase-Control StudiesCoronary Artery DiseaseGenetic Predisposition to DiseaseHaplotypesHumansItalyLDL-Receptor Related ProteinsMyocardial InfarctionPedigreeWhite PeopleLDL-Receptor Related Proteinslow density lipoprotein receptor-related protein 8

Identifiers

PMID23524007
PMCPMC3919654
OpenAlexW1980918461

What OpenQuestion holds

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LicenceTDM
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.