Evidence map›Paper›PMID 29093733›Full record

ArticleFrontiers in genetics2017

Exome-Wide Meta-Analysis Identifies Rare 3'-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea.

Ashley van der Spek, Annemarie I Luik, Desana Kocevska, Chunyu Liu, Rutger W W Brouwer, Jeroen G J van Rooij, Mirjam C G N van den Hout, Robert Kraaij, Albert Hofman, André G Uitterlinden and 5 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 37% 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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
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

15 authors at 5 institutions in 3 countries.

Ashley van der SpekDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Annemarie I LuikSleep and Circadian Neuroscience Institute, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
Desana KocevskaDepartment of Child and Adolescent Psychiatry, Erasmus Medical Center, Rotterdam, Netherlands.
Chunyu LiuFramingham Heart Study, National Heart, Lung, and Blood Institute, Framingham, MA, United States.
Rutger W W BrouwerCenter for Biomics, Erasmus Medical Center, Rotterdam, Netherlands.
Jeroen G J van RooijDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands.
Mirjam C G N van den HoutCenter for Biomics, Erasmus Medical Center, Rotterdam, Netherlands.
Robert KraaijDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Wilfred F J van IJckenCenter for Biomics, Erasmus Medical Center, Rotterdam, Netherlands.
Daniel J GottliebVA Boston Healthcare System, Boston, MA, United States.
Henning TiemeierDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Najaf AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands.
Erasmus MC · NLHarvard University · USFramingham Heart Study · USNetherlands Consortium for Healthy Ageing · NLUniversity of Oxford · GB

Funding

Common Genetic Variation and Quantitative Diabetes TraitsR01DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2008 to 2014
$5.0M
Epidemiology of Precursors to Type 2 DiabetesK24DK080140 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2007 to 2016
$1.9M
SLEEP HEART HEALTH STUDYU01HL053941 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI O'CONNOR, GEORGE T · 1994 to 2007
$1.4M
THE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
–
NHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS N01 HC025195NHLBI NIH HHS U01 HL053941NIDDK NIH HHS K24 DK080140NIDDK NIH HHS R01 DK078616
6 · The paper itself

Abstract

Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality. Although OSA is fairly heritable (~40%), there have been only few studies looking into the genetics of OSA. In the present study, we aimed to identify genetic variants associated with symptoms of sleep apnea by performing a whole-exome sequence meta-analysis of symptoms of sleep apnea in 1,475 individuals of European descent. We identified 17 rare genetic variants with at least suggestive evidence of significance. Replication in an independent dataset confirmed the association of a rare genetic variant (rs2229918; minor allele frequency = 0.3%) with symptoms of sleep apnea (

Indexed as

CD3EAPERCC1exomegeneticssequence analysissleepsleep apnea syndromes

Identifiers

PMID29093733
PMCPMC5651235
OpenAlexW2766411594

What OpenQuestion holds

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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.