Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms.
Laurence J Howe, Gibran Hemani, Corina Lesseur, Valérie Gaborieau, Kerstin U Ludwig, Elisabeth Mangold, Paul Brennan, Andy R Ness, Beate St Pourcain, George Davey Smith and 1 more
Article in Genetic epidemiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 21% 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
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
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
11 authors at 4 institutions in 4 countries.
Laurence J HoweMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, UK.ORCID 0000-0002-2819-9686
Gibran HemaniMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, UK.
Corina LesseurSection of Genetics, International Agency for Research on Cancer, Lyon, France.
Valérie GaborieauSection of Genetics, International Agency for Research on Cancer, Lyon, France.
Kerstin U LudwigInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Elisabeth MangoldInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Paul BrennanSection of Genetics, International Agency for Research on Cancer, Lyon, France.
Andy R NessNIHR Bristol Biomedical Research Centre, University Hospitals Bristol, Bristol, UK.
Beate St PourcainMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, UK.
George Davey SmithMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, UK.
Sarah J LewisMedical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, UK.
Bristol City Council · GBCentre international de recherche sur le cancer · FRUniversity of Bonn · DEUniversity Hospitals Bristol NHS Foundation Trust · GB
Funding
VECTOR CORE FACILITYP30CA047904 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CHRISTOPHER J. BAKKENIST · 1988 to 2026
$158.0M
WILD TYPE P53-BASED ADJUVANT IMMUNOTHERAPY FOR SCCHNP50CA097190 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Heath Devin Skinner · 2004 to 2026
$49.6M
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
Transdisciplinary Research in Cancer of the Lung (TRICL)U19CA148127 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI AMOS, CHRISTOPHER I., LE MARCHAND, LOIC · 2010 to 2014
$10.9M
PHENOTYPE AND GENETICS IN OROFACIAL CLEFT FAMILIESP50DE016215 · NIDCR · UNIVERSITY OF IOWA · PI LOVETT, MICHAEL · 2004 to 2008
$10.1M
International Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6M
Genome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6M
Gene Environment Interaction in Head and Neck CancerR01CA090731 · NCI · UNIVERSITY OF NORTH CAROLINA CHAPEL HILL · PI OLSHAN, ANDREW · 2001 to 2005
$4.6M
SNP DISCOVERY AND ANALYSIS IN CRANIOFACIAL BIRTH DEFECTSR01DE013939 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI SCOTT, ALAN F · 2000 to 2004
$4.3M
GENETICS OF TOBACCO AND ALCOHOL RELATED CANCERSR01CA092039 · NCI · INTERNATIONAL AGENCY FOR RES ON CANCER · PI BRENNAN, PAUL JOSEPH · 2003 to 2010
$3.6M
International Consortium to Identify Genes and Interactions Controlling Oral ClefU01DE018993 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2007 to 2008
$1.6M
Planning International Orofacial Cleft Genetic StudiesR21DE016930 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L · 2006 to 2007
$293k
Cancer Research UK 19169Cancer Research UK 29019Department of Health RP‐PG‐300 0707‐10034Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MC_UU_00011/1NCI NIH HHS P30 CA047904NCI NIH HHS P50 CA097190NCI NIH HHS R01 CA090731NCI NIH HHS R01 CA092039NCI NIH HHS U19 CA148127NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004446NIDCR NIH HHS P50 DE016215NIDCR NIH HHS R01 DE013939NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE013704NIDCR NIH HHS R21 DE016930NIDCR NIH HHS U01 DE018993Wellcome TrustWellcome Trust 208806/Z/17/ZWorld Health Organization 001
6 · The paper itself
Abstract
It has been hypothesised that nonsyndromic cleft lip/palate (nsCL/P) and cancer may share aetiological risk factors. Population studies have found inconsistent evidence for increased incidence of cancer in nsCL/P cases, but several genes (e.g., CDH1, AXIN2) have been implicated in the aetiologies of both phenotypes. We aimed to evaluate shared genetic aetiology between nsCL/P and oral cavity/oropharyngeal cancers (OC/OPC), which affect similar anatomical regions. Using a primary sample of 5,048 OC/OPC cases and 5,450 controls of European ancestry and a replication sample of 750 cases and 336,319 controls from UK Biobank, we estimate genetic overlap using nsCL/P polygenic risk scores (PRS) with Mendelian randomization analyses performed to evaluate potential causal mechanisms. In the primary sample, we found strong evidence for an association between a nsCL/P PRS and increased odds of OC/OPC (per standard deviation increase in score, odds ratio [OR]: 1.09; 95% confidence interval [CI]: 1.04, 1.13; p = .000053). Although confidence intervals overlapped with the primary estimate, we did not find confirmatory evidence of an association between the PRS and OC/OPC in UK Biobank (OR 1.02; 95% CI: 0.95, 1.10; p = .55). Mendelian randomization analyses provided evidence that major nsCL/P risk variants are unlikely to influence OC/OPC. Our findings suggest possible shared genetic influences on nsCL/P and OC/OPC.
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.
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms. · full record | OpenQuestion