Evidence map›Paper›PMID 18978678›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2008

Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.

Alexandre R Vieira, Toby G McHenry, Sandra Daack-Hirsch, Jeffrey C Murray, Mary L Marazita

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
3.1field-weighted citation impact, top 8% 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

38 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.

  1. Pooled it
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  15. Association ofInternational journal of environmental research and public health · 2021
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  18. Biomarkers for Lifetime Caries-Free Status.Journal of personalized medicine · 2020
    Article
  19. Temporomandibular Joint Condyle-Disc Morphometric Sexual Dimorphisms Independent of Skull Scaling.Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons · 2019
    Article
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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

5 authors at 2 institutions in 1 country.

Alexandre R VieiraDepartment of 1Oral Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA. arv11@dental.pitt.edu
Toby G McHenry
Sandra Daack-Hirsch
Jeffrey C Murray
Mary L Marazita
University of Pittsburgh · USUniversity 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
PHENOTYPE AND GENETICS IN OROFACIAL CLEFT FAMILIESP50DE016215 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2008
$10.1M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
GENOTYPING FOR LOCATING HUMAN DISEASE GENESN01HG065403 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID L · 1996 to 2000
$1.7M
Dental anomalies as an extended phenotype for cleftsR21DE016718 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI VIEIRA, ALEXANDRE REZENDE · 2005 to 2006
$402k
NHGRI NIH HHS N01 HG065403NIDCR NIH HHS P50 DE016215NIDCR NIH HHS P50-DE016215NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01-DE016148NIDCR NIH HHS R21 DE016718NIDCR NIH HHS R21-DE016718NIDCR NIH HHS R37 DE008559NIDCR NIH HHS R37-DE08559
6 · The paper itself

Abstract

purposeWe revisited 42 families with two or more cleft-affected siblings who participated in previous studies. Complete dental information was collected to test the hypothesis that dental anomalies are part of the cleft phenotype spectrum, and can provide new opportunities for identification of cleft susceptibility genes.

methodsGenotypes from 1489 single nucleotide polymorphism markers located in 150 candidate genes/loci were reanalyzed. Two sets of association analyses were carried out. First, we ran the analysis solely on the cleft status. Second, we assigned affection to any cleft or dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) and repeated the analysis.

resultsSignificant over-transmission was seen for a single nucleotide polymorphism in ankyrin repeat and sterile alpha motif domain containing 6 (rs4742741, 9q22.33; P = 0.0004) when a dental anomaly phenotype was included in the analysis. Significant over-transmission was also seen for a single nucleotide polymorphism in ERBB2 (rs1810132, 17q21.1; P = 0.0006). In the clefts only data, the most significant result was also for ERBB2 (P = 0.0006). Other markers with suggestive P values included interferon regulatory factor 6 and 6q21-q23 loci. In contrast to the above results, suggestive over-transmission of markers in GART, DPF3, and neurexin 3 were seen only when the dental anomaly phenotype was included in the analysis.

conclusionsThese findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Thus, including dental anomalies information in the genetics analysis of cleft lip and palate will provide new opportunities to map susceptibility loci for clefts.

Indexed as

Linkage DisequilibriumCleft LipCleft PalateGenome, HumanGenotypeHumansPhenotypePolymorphism, Single NucleotideTooth Abnormalities

Identifiers

PMID18978678
PMCPMC2734954
OpenAlexW2144528549

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.