Evidence map›Paper›PMID 28019042›Full record

ArticleGenetic epidemiology2017

Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.

Yanzi Xiao, Margaret A Taub, Ingo Ruczinski, Ferdouse Begum, Jacqueline B Hetmanski, Holger Schwender, Elizabeth J Leslie, Daniel C Koboldt, Jeffrey C Murray, Mary L Marazita and 1 more

Open access · greenAbstract read
In one paragraph

Article in Genetic epidemiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.7field-weighted citation impact, top 9% 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

12 citing papers in PubMed, 34 citations in OpenAlex.

  1. Adolescents with orofacial clefts: understanding their experiences.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2024
    Article
  2. Article
  3. Prenatal diagnosis of orofacial clefts: unveiling the parents' experience.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023
    Article
  4. Role ofGlobal medical genetics · 2022
    Article
  5. Article
  6. Article
  7. [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate onBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2020
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. 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

11 authors at 4 institutions in 2 countries.

Yanzi XiaoDepartment of Epidemiology, School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Margaret A TaubDepartment of Biostatistics, School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Ingo RuczinskiDepartment of Biostatistics, School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Ferdouse BegumDepartment of Epidemiology, School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Jacqueline B HetmanskiDepartment of Epidemiology, School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Holger SchwenderMathematical Institute, Heinrich Heine University, Düsseldorf, Germany.
Elizabeth J LeslieCenter for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Daniel C KoboldtThe Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Jeffrey C MurrayDepartment of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Terri H BeatyDepartment of Epidemiology, School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Johns Hopkins University · USUniversity of Pittsburgh · USHeinrich Heine University Düsseldorf · DEUniversity of Iowa · US

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
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
GENETIC MAPPING STUDIES OF ORAL-FACIAL CLEFTS IN CHINAR01DE009886 · NIDCR · VIRGINIA COMMONWEALTH UNIVERSITY · PI MARAZITA, MARY L · 1992 to 2002
$1.0M
Genetics of Craniofacial Disorders and Related PhenotypesR00DE025060 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LESLIE-CLARKSON, ELIZABETH JANE · 2017 to 2019
$732k
Planning International Orofacial Cleft Genetic StudiesR21DE016930 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L · 2006 to 2007
$293k
Sequencing of significant signals from cleft lip GWASU01HG005925 · NHGRI · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2010 to 2010
$238k
Genetics of Craniofacial Disorders and Related PhenotypesK99DE025060 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LESLIE-CLARKSON, ELIZABETH JANE · 2015 to 2016
$188k
NHGRI NIH HHS U01 HG005925NIDCR NIH HHS K99 DE025060NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE008559NIDCR NIH HHS R01 DE009886NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R37 DE008559NIDCR NIH HHS U01 DE018993
6 · The paper itself

Abstract

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, affecting 1 in 700 live births. This malformation has a complex etiology where multiple genes and several environmental factors influence risk. At least a dozen different genes have been confirmed to be associated with risk of NSCL/P in previous studies. However, all the known genetic risk factors cannot fully explain the observed heritability of NSCL/P, and several authors have suggested gene-gene (G × G) interaction may be important in the etiology of this complex and heterogeneous malformation. We tested for G × G interactions using common single nucleotide polymorphic (SNP) markers from targeted sequencing in 13 regions identified by previous studies spanning 6.3 Mb of the genome in a study of 1,498 NSCL/P case-parent trios. We used the R-package trio to assess interactions between polymorphic markers in different genes, using a 1 degree of freedom (1df) test for screening, and a 4 degree of freedom (4df) test to assess statistical significance of epistatic interactions. To adjust for multiple comparisons, we performed permutation tests. The most significant interaction was observed between rs6029315 in MAFB and rs6681355 in IRF6 (4df P = 3.8 × 10

Indexed as

Genome-Wide Association StudyAsian PeopleCleft LipCleft PalateEpistasis, GeneticEthnicityFemaleHumansMaleParentsPolymorphism, Single NucleotideRisk FactorsWhite Peoplecase-parent triosgene-gene interactionoral clefts

Identifiers

PMID28019042
PMCPMC5340569
OpenAlexW2563496816

What OpenQuestion holds

Textmetadata
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.