Evidence map›Paper›PMID 20087401›Full record

ArticleEuropean journal of human genetics : EJHG2010

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Roxann G Ingersoll, Jacqueline Hetmanski, Ji-Wan Park, M Daniele Fallin, Iain McIntosh, Yah-Huei Wu-Chou, Philip K Chen, Vincent Yeow, Samuel S Chong, Felicia Cheah and 12 more

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.5field-weighted citation impact, top 16% 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

14 citing papers in PubMed, 26 citations in OpenAlex.

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  12. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2013
    Article
  13. Calcium-binding protein S100P and cancer: mechanisms and clinical relevance.Journal of cancer research and clinical oncology · 2012
    Review
  14. 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

22 authors at 11 institutions in 7 countries.

Roxann G IngersollJohns Hopkins Bloomberg School of Public Health, Department of Epidemiology, Baltimore, MD 21287, USA. rashwor2@jhmi.edu
Jacqueline Hetmanski
Ji-Wan Park
M Daniele Fallin
Iain McIntosh
Yah-Huei Wu-Chou
Philip K Chen
Vincent Yeow
Samuel S Chong
Felicia Cheah
Jae Woong Sull
Sun Ha Jee
Hong Wang
Tao Wu
Tanda Murray
Shangzhi Huang
Xiaoqian Ye
Ethylin Wang Jabs
Richard Redett
Gerald Raymond
Alan F Scott
Terri H Beaty
Johns Hopkins University · USChang Gung Memorial Hospital · TWJohns Hopkins Medicine · USNational University of Singapore · SGYonsei University · KRAmerican University of the Caribbean · HTKennedy Krieger Institute · USKK Women's and Children's Hospital · SGPeking Union Medical College Hospital · CNPeking University · CNWuhan University · CN

Funding

International Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6M
SNP DISCOVERY AND ANALYSIS IN CRANIOFACIAL BIRTH DEFECTSR01DE013939 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI SCOTT, ALAN F · 2000 to 2004
$4.3M
NIDCR NIH HHS NIH R01-DE-013939NIDCR NIH HHS NIH R01-DE-01448NIDCR NIH HHS R01 DE013939NIDCR NIH HHS R01 DE014581
6 · The paper itself

Abstract

Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.

Indexed as

Genome-Wide Association StudyChromosomes, Human, Pair 4Cleft LipCleft PalateFemaleGenesGenetic Predisposition to DiseaseGenetics, PopulationHumansIntercellular Signaling Peptides and ProteinsKoreaLinkage DisequilibriumMaleMarylandMembrane ProteinsMSX1 Transcription FactorEVC2 protein, humanEVC protein, humanIntercellular Signaling Peptides and ProteinsMembrane ProteinsMSX1 protein, humanMSX1 Transcription FactorProteinsProtein Serine-Threonine KinasesSTK32B protein, human

Identifiers

PMID20087401
PMCPMC2874614
OpenAlexW2026655865

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.