Evidence map›Paper›PMID 18357615›Full record

ArticleGenetic epidemiology2008

Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.

Jae Woong Sull, Kung-Yee Liang, Jacqueline B Hetmanski, Margaret Daniele Fallin, Roxann G Ingersoll, Jiwan Park, Yah-Huei Wu-Chou, Philip K Chen, Samuel S Chong, Felicia Cheah and 9 more

Open access · greenAbstract read
In one paragraph

Article in Genetic epidemiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

26 citing papers in PubMed, 35 citations in OpenAlex.

  1. Article
  2. Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022
    Article
  3. Review
  4. Article
  5. Article
  6. [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
  7. Article
  8. Review
  9. Global medical genetics · 2020
    Article
  10. Specificity Protein 7 Is Required for Proliferation and Differentiation of Ameloblasts and Odontoblasts.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018
    Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Candidate pathway based analysis for cleft lip with or without cleft palate.Statistical applications in genetics and molecular biology · 2012
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review
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

19 authors at 6 institutions in 4 countries.

Jae Woong SullJohns Hopkins Bloomberg School of Public Health, Johns Hopkins University, 615 North Wolfe Street, Baltimore, MD 21205, USA.
Kung-Yee Liang
Jacqueline B Hetmanski
Margaret Daniele Fallin
Roxann G Ingersoll
Jiwan Park
Yah-Huei Wu-Chou
Philip K Chen
Samuel S Chong
Felicia Cheah
Vincent Yeow
Beyoung Yun Park
Sun Ha Jee
Ethylin Wang Jabs
Richard Redett
Euiju Jung
Ingo Ruczinski
Alan F Scott
Terri H Beaty
Johns Hopkins University · USNational University of Singapore · SGTaoyuan Chang Gung Memorial Hospital · TWKK Women's and Children's Hospital · SGSungkyunkwan University · KRYonsei University · KR

Funding

International Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6M
Novel Statistical Methods for Gene-Environment Interactions in Complex DiseasesR01HL090577 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI RUCZINSKI, INGO · 2007 to 2009
$1.1M
INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTSR21DE013707 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2000 to 2001
$246k
NHLBI NIH HHS R01 HL 090577NHLBI NIH HHS R01 HL090577NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01-DE-014581NIDCR NIH HHS R21-DE-013707
6 · The paper itself

Abstract

Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence around 1 in 700 live births. The Runt-related transcription factor 2 (RUNX2) gene has been suggested as a candidate gene for CL/P based largely on mouse models; however, no human studies have focused on RUNX2 as a risk factor for CL/P. This study examines the association between markers in RUNX2 and isolated, nonsyndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Case-parent trios from four populations (77 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 24 single nucleotide polymorphisms (SNPs) in the RUNX2 gene. We performed the transmission disequilibrium test on individual SNPs. Parent-of-origin effects were assessed using the transmission asymmetry test and the parent-of-origin likelihood ratio test (PO-LRT). When all trios were combined, the transmission asymmetry test revealed a block of 11 SNPs showing excess maternal transmission significant at the P<0.01 level, plus one SNP (rs1934328) showing excess paternal transmission (P=0.002). For the 11 SNPs showing excess maternal transmission, odds ratios of being transmitted to the case from the mother ranged between 3.00 and 4.00. The parent-of-origin likelihood ratio tests for equality of maternal and paternal transmission were significant for three individual SNPs (rs910586, rs2819861, and rs1934328). Thus, RUNX2 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.

Indexed as

Genomic ImprintingCleft LipCleft PalateCore Binding Factor Alpha 1 SubunitFemaleGenetic MarkersGenetic Predisposition to DiseaseGenotypeHumansInheritance PatternsKoreaLikelihood FunctionsLinkage DisequilibriumMaleMarylandPolymorphism, Single NucleotideCore Binding Factor Alpha 1 SubunitGenetic MarkersRUNX2 protein, human

Identifiers

PMID18357615
PMCPMC2841966
OpenAlexW1985890279

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.