Evidence map›Paper›PMID 26166477›Full record

ArticleAmerican journal of human genetics2015

Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages.

Paraskevi Christofidou, Christopher P Nelson, Majid Nikpay, Liming Qu, Mingyao Li, Christina Loley, Radoslaw Debiec, Peter S Braund, Matthew Denniff, Fadi J Charchar and 15 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 7% 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

28 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.

  1. Pooled it
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  14. Genomic partitioning of inbreeding depression in humans.American journal of human genetics · 2021
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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

25 authors at 10 institutions in 6 countries.

Paraskevi ChristofidouDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK.
Christopher P NelsonDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK; NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK.
Majid NikpayRuddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada; Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada.
Liming QuDepartment of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Mingyao LiDepartment of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Christina LoleyInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany.
Radoslaw DebiecDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK.
Peter S BraundDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK.
Matthew DenniffDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK.
Fadi J CharcharFaculty of Science and Technology, School of Applied and Biomedical Sciences, Federation University Australia, Ballarat, VIC 3350, Australia.
Ares Rocanin ArjoICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France; INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France; Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France.
David-Alexandre TrégouëtICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France; INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France; Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France.
Alison H GoodallDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK; NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK.
Francois CambienICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France; INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France; Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France.
Willem H OuwehandDepartment of Haematology, Cambridge Biomedical Campus, University of Cambridge and NHS Blood and Transplant, Cambridge CB2 0PT, UK; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK.
Robert RobertsRuddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada; Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada.
Heribert SchunkertDeutsches Herzzentrum München, Technische Universität München, Munich 80636, Germany; Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK), Munich 80636, Germany.
Christian HengstenbergDeutsches Herzzentrum München, Technische Universität München, Munich 80636, Germany; Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK), Munich 80636, Germany.
Muredach P ReillyCardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19148, USA.
Jeanette ErdmannInstitute for Integrative and Experimental Genomics, University of Lübeck, Lübeck 23562, Germany.
Ruth McPhersonRuddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada; Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada.
Inke R KönigInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany.
John R ThompsonDepartment of Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK; NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK.
Maciej TomaszewskiDepartment of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK; NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK. Electronic address: mt142@le.ac.uk.
University of Leicester · GBInserm · FRUniversity of Ottawa · CADeutsches Herzzentrum der Charité · DEUniversity of Lübeck · DEUniversity of Pennsylvania · USCardiovascular Institute of the South · USFederation University · AUInstitute for Integrative and Experimental Genomics · DENHS Blood and Transplant · GB

Funding

British Heart Foundation PG/12/9/29376Department of Health RP-PG-0310-1002Wellcome TrustWellcome Trust 084183/Z/07/Z
6 · The paper itself

Abstract

Runs of homozygosity (ROHs) are recognized signature of recessive inheritance. Contributions of ROHs to the genetic architecture of coronary artery disease and regulation of gene expression in cells relevant to atherosclerosis are not known. Our combined analysis of 24,320 individuals from 11 populations of white European ethnicity showed an association between coronary artery disease and both the count and the size of ROHs. Individuals with coronary artery disease had approximately 0.63 (95% CI: 0.4-0.8) excess of ROHs when compared to coronary-artery-disease-free control subjects (p = 1.49 × 10(-9)). The average total length of ROHs was approximately 1,046.92 (95% CI: 634.4-1,459.5) kb greater in individuals with coronary artery disease than control subjects (p = 6.61 × 10(-7)). None of the identified individual ROHs was associated with coronary artery disease after correction for multiple testing. However, in aggregate burden analysis, ROHs favoring increased risk of coronary artery disease were much more common than those showing the opposite direction of association with coronary artery disease (p = 2.69 × 10(-33)). Individual ROHs showed significant associations with monocyte and macrophage expression of genes in their close proximity-subjects with several individual ROHs showed significant differences in the expression of 44 mRNAs in monocytes and 17 mRNAs in macrophages when compared to subjects without those ROHs. This study provides evidence for an excess of homozygosity in coronary artery disease in outbred populations and suggest the potential biological relevance of ROHs in cells of importance to the pathogenesis of atherosclerosis.

Indexed as

HomozygoteAge FactorsCoronary Artery DiseaseGene Expression RegulationGenes, RecessiveHumansMacrophagesMonocytesRNA, MessengerWhite PeopleRNA, Messenger

Identifiers

PMID26166477
PMCPMC4573243
OpenAlexW1744773367

What OpenQuestion holds

Textmetadata
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.