Evidence map›Paper›PMID 22508319›Full record

ArticleGenetic epidemiology2012

Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans.

Tanda Murray, Margaret A Taub, Ingo Ruczinski, Alan F Scott, Jacqueline B Hetmanski, Holger Schwender, Poorav Patel, Tian Xiao Zhang, Ronald G Munger, Allen J Wilcox and 11 more

Open access · greenAbstract read
In one paragraph

Article in Genetic epidemiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.5field-weighted citation impact, top 11% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Proportion of Orofacial Clefts Attributable to Recognized Risk Factors.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2019
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Genetics of cleft lip and cleft palate.American journal of medical genetics. Part C, Seminars in medical genetics · 2013
    Review
  15. Article
  16. 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 13 institutions in 6 countries.

Tanda MurrayDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205, USA.
Margaret A Taub
Ingo Ruczinski
Alan F Scott
Jacqueline B Hetmanski
Holger Schwender
Poorav Patel
Tian Xiao Zhang
Ronald G Munger
Allen J Wilcox
Xiaoqian Ye
Hong Wang
Tao Wu
Yah Huei Wu-Chou
Bing Shi
Sun Ha Jee
Samuel Chong
Vincent Yeow
Jeffrey C Murray
Mary L Marazita
Terri H Beaty
Johns Hopkins University · USPeking University · CNKK Women's and Children's Hospital · SGNational Institute of Environmental Health Sciences · USNational University of Singapore · SGState Key Laboratory of Oral DiseasesTaoyuan Chang Gung Memorial Hospital · TWTU Dortmund University · DEUniversity of Iowa Stead Family Children’s Hospital · USUniversity of Pittsburgh · USUtah State University · USWuhan University · CNYonsei University · KR

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 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
Environmental And Genetic Causes Of Birth DefectsZIAES049027 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WILCOX, ALLEN J · 2009 to 2020
$2.6M
International Consortium to Identify Genes and Interactions Controlling Oral ClefU01DE018993 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2007 to 2008
$1.6M
Oral Clefts: Moving from Genome Wide Studies Toward Functional GenomicsU01DE020073 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2009 to 2013
$1.1M
Planning International Orofacial Cleft Genetic StudiesR21DE016930 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L · 2006 to 2007
$293k
INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTSR21DE013707 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2000 to 2001
$246k
Intramural NIH HHSNHGRI 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 DE013707NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R21-DE016930NIDCR NIH HHS R37 DE008559NIDCR NIH HHS R37-DE08559NIDCR NIH HHS U01 DE018993NIDCR NIH HHS U01-DE-018993NIDCR NIH HHS U01 DE020073
6 · The paper itself

Abstract

In a recent genome-wide association study (GWAS) from an international consortium, evidence of linkage and association in chr8q24 was much stronger among nonsyndromic cleft lip/palate (CL/P) case-parent trios of European ancestry than among trios of Asian ancestry. We examined marker information content and haplotype diversity across 13 recruitment sites (from Europe, United States, and Asia) separately, and conducted principal components analysis (PCA) on parents. As expected, PCA revealed large genetic distances between Europeans and Asians, and a north-south cline from Korea to Singapore in Asia, with Filipino parents forming a somewhat distinct Southeast Asian cluster. Hierarchical clustering of SNP heterozygosity revealed two major clades consistent with PCA results. All genotyped SNPs giving P < 10(-6) in the allelic transmission disequilibrium test (TDT) showed higher heterozygosity in Europeans than Asians. On average, European ancestry parents had higher haplotype diversity than Asians. Imputing additional variants across chr8q24 increased the strength of statistical evidence among Europeans and also revealed a significant signal among Asians (although it did not reach genome-wide significance). Tests for SNP-population interaction were negative, indicating the lack of strong signal for 8q24 in families of Asian ancestry was not due to any distinct genetic effect, but could simply reflect low power due to lower allele frequencies in Asians.

Indexed as

Chromosomes, Human, Pair 8AllelesAsian PeopleCleft LipCleft PalateCluster AnalysisGenetic Predisposition to DiseaseGenomeGenotypeHaplotypesHeterozygoteHumansLinkage DisequilibriumModels, GeneticPrincipal Component AnalysisWhite People

Identifiers

PMID22508319
PMCPMC3615645
OpenAlexW1652556325

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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.