Evidence map›Paper›PMID 23489894›Full record

ArticleEuropean journal of oral sciences2013

X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.

Poorav J Patel, Terri H Beaty, Ingo Ruczinski, Jeffrey C Murray, Mary L Marazita, Ronald G Munger, Jacqueline B Hetmanski, Tao Wu, Tanda Murray, Margaret Rose and 11 more

Open access · greenAbstract read
In one paragraph

Article in European journal of oral sciences, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
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  6. Learning about the X from our parents.Frontiers in genetics · 2015
    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

21 authors at 12 institutions in 6 countries.

Poorav J PatelJohns Hopkins University, Baltimore, MD 21205-2103, USA.
Terri H Beaty
Ingo Ruczinski
Jeffrey C Murray
Mary L Marazita
Ronald G Munger
Jacqueline B Hetmanski
Tao Wu
Tanda Murray
Margaret Rose
Richard J Redett
Sheng C Jin
Rolv T Lie
Yah-Huei Wu-Chou
Hong Wang
Xiaoqian Ye
Vincent Yeow
Samuel Chong
Sun H Jee
Bing Shi
Alan F Scott
Johns Hopkins University · USPeking University · CNChang Gung Memorial Hospital · TWKK Women's and Children's Hospital · SGNational University of Singapore · SGSichuan University · CNUniversity of Bergen · NOUniversity of Iowa · USUniversity of Pittsburgh · USUtah State University · USWuhan University · CNYonsei University · KR

Funding

Pulmonary Toxicology Facility CoreP30ES005605 · NIEHS · UNIVERSITY OF IOWA · PI Brandi Janssen · 1990 to 2026
$40.5M
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 LOVETT, MICHAEL · 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
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
Planning International Orofacial Cleft Genetic StudiesR21DE016930 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L · 2006 to 2007
$293k
NHGRI NIH HHS HHSN268200782096CNIDCR NIH HHS P50 DE016215NIDCR NIH HHS P50-DE016215NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01-DE-014581NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01-DE016148NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R21-DE016930NIDCR NIH HHS R37 DE008559NIDCR NIH HHS R37-DE08559NIDCR NIH HHS U01 DE018993NIDCR NIH HHS U01-DE-018993NIEHS NIH HHS P30 ES005605
6 · The paper itself

Abstract

As part of an international consortium, case-parent trios were collected for a genome-wide association study of isolated, non-syndromic oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP). Non-syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family-based association tests (FBAT) were used on 14,486 single nucleotide polymorphisms (SNPs) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple-comparisons correction, were obtained for the Duchenne muscular dystrophy (DMD) gene, the largest single gene in the human genome, among CL/P (i.e., both CL and CLP combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding-window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant SNPs in the DMD gene identified four SNPs together that attained genome-wide significance among Asian CL/P trios, raising the possibility of interaction between distant SNPs within the DMD gene.

Indexed as

Genetic MarkersAdultAsian PeopleCleft LipCleft PalateFemaleGenes, X-LinkedGenome-Wide Association StudyHaplotypesHumansMaleMuscular Dystrophy, DuchennePolymorphism, Single NucleotidePrincipal Component AnalysisRiskWhite PeopleGenetic Markers

Identifiers

PMID23489894
PMCPMC3600648
OpenAlexW1993788509

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.