Evidence map›Paper›PMID 22863734›Full record

SynthesisNature genetics2012

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

Kerstin U Ludwig, Elisabeth Mangold, Stefan Herms, Stefanie Nowak, Heiko Reutter, Anna Paul, Jessica Becker, Ruth Herberz, Taofik AlChawa, Entessar Nasser and 29 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
185citing papers in PubMed, 10 pooled it
–field-weighted citation impact
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

185 citing papers in PubMed, 10 syntheses or guidelines pooled it.

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  11. Trial
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  13. High dosage folic acid supplementation, oral cleft recurrence and fetal growth.International journal of environmental research and public health · 2013
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125 more citing papers are in PubMed but not listed here.

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

39 authors.

Kerstin U LudwigInstitute of Human Genetics, University of Bonn, Germany.
Elisabeth Mangold
Stefan Herms
Stefanie Nowak
Heiko Reutter
Anna Paul
Jessica Becker
Ruth Herberz
Taofik AlChawa
Entessar Nasser
Anne C Böhmer
Manuel Mattheisen
Margrieta A Alblas
Sandra Barth
Nadine Kluck
Carola Lauster
Bert Braumann
Rudolf H Reich
Alexander Hemprich
Simone Pötzsch
Bettina Blaumeiser
Nikolaos Daratsianos
Thomas Kreusch
Jeffrey C Murray
Mary L Marazita
Ingo Ruczinski
Alan F Scott
Terri H Beaty
Franz-Josef Kramer
Thomas F Wienker
Regine P Steegers-Theunissen
Michele Rubini
Peter A Mossey
Per Hoffmann
Christoph Lange
Sven Cichon
Peter Propping
Michael Knapp
Markus M Nöthen

Funding

Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
SEARCHING FOR SUSCEPTIBILITY GENES FOR ORAL CLEFTSP60DE013078 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI JABS, ETHYLIN WANG · 1999 to 2003
$8.9M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
International Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6M
International Consortium to Identify Genes and Interactions Controlling Oral ClefU01DE018993 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2007 to 2008
$1.6M
MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATER01DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 1988 to 2003
$1.5M
INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTSR21DE013707 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2000 to 2001
$246k
NIDCR NIH HHS P60 DE013078NIDCR NIH HHS R01 DE008559NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE013707NIDCR NIH HHS R37 DE008559NIDCR NIH HHS U01 DE018993
6 · The paper itself

Abstract

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P(NSCLP) = 6.51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

Indexed as

AdultChildCleft LipCleft PalateFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleParentsPolymorphism, Single NucleotideRisk FactorsSyndrome

Identifiers

PMID22863734
PMCPMC3598617

What OpenQuestion holds

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LicenceTDM
Read underepoch 390

Registered trials

None linked

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.