Evidence map›Paper›PMID 12087515›Full record

ArticleAmerican journal of human genetics2002

Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families.

Mary L Marazita, L Leigh Field, Margaret E Cooper, Rose Tobias, Brion S Maher, Supakit Peanchitlertkajorn, You-e Liu

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
6.7field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.

  1. Pooled it
  2. Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.International journal of molecular sciences · 2022
    Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. The evolution of human genetic studies of cleft lip and cleft palate.Annual review of genomics and human genetics · 2012
    Review
  14. Genetics of nonsyndromic orofacial clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2012
    Review
  15. Article
  16. Article
  17. Folate pathway and nonsyndromic cleft lip and palate.Birth defects research. Part A, Clinical and molecular teratology · 2011
    Article
  18. Novel cleft susceptibility genes in chromosome 6q.Journal of dental research · 2010
    Article
  19. Article
  20. 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

7 authors at 4 institutions in 3 countries.

Mary L MarazitaCenter for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA. marazita@sdmgenetics.pitt.edu
L Leigh Field
Margaret E Cooper
Rose Tobias
Brion S Maher
Supakit Peanchitlertkajorn
You-e Liu
University of Calgary · CAShangHai JiAi Genetics & IVF Institute · CNThe University of Texas Southwestern Medical Center · USUniversity of Pittsburgh · 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
X-LINKED EXTENSION OF THE REVISED HASEMAN-ELSTON ALGORITHM FOR LINKAGE ANALYSISP41RR003655 · NCRR · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ELSTON, ROBERT C. · 1987 to 2011
$11.5M
GENETIC MAPPING STUDIES OF ORAL-FACIAL CLEFTS IN CHINAR01DE009886 · NIDCR · VIRGINIA COMMONWEALTH UNIVERSITY · PI MARAZITA, MARY L · 1992 to 2002
$1.0M
NCRR NIH HHS 1P41 RR 03655NCRR NIH HHS P41 RR003655NIDCR NIH HHS DE 09886NIDCR NIH HHS R01 DE009886NIDCR NIH HHS R01 DE016148
6 · The paper itself

Abstract

Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly. Birth prevalences range from 1/500 to 1/1,000 and are consistently higher in Asian populations than in populations of European descent. Therefore, it is of interest to determine whether the CL/P etiological factors in Asian populations differ from those in white populations. A sample of 36 multiplex families were ascertained through probands with CL/P who were from Shanghai. This is the first reported genome-scan study of CL/P in any Asian population. Genotyping of Weber Screening Set 9 (387 short tandem-repeat polymorphisms with average spacing approximately 9 cM [range 1-19 cM]) was performed by the Mammalian Genotyping Service of Marshfield Laboratory. Presented here are the results for the 366 autosomal markers. Linkage between each marker and CL/P was assessed by two-point and multipoint LOD scores, as well as with multipoint heterogeneity LOD scores (HLODs) plus model-free identity-by-descent statistics and the multipoint NPL statistic. In addition, association was assessed via the transmission/disequilibrium test. LOD-score and HLOD calculations were performed under a range of models of inheritance of CL/P. The following regions had positive multipoint results (HLOD > or =1.0 and/or NPL P< or =.05): chromosomes 1 (90-110 cM), 2 (220-250 cM), 3 (130-150 cM), 4 (140-170 cM), 6 (70-100 cM), 18 (110 cM), and 21 (30-50 cM). The most significant multipoint linkage results (HLOD > or =2.0; alpha=0.37) were for chromosomes 3q and 4q. Associations with P< or =.05 were found for loci on chromosomes 3, 5-7, 9, 11, 12, 16, 20, and 21. The most significant association result (P=.009) was found with D16S769 (51 cM).

Indexed as

Chromosomes, Human, Pair 3Chromosomes, Human, Pair 4Genetic LinkageGenome, HumanChinaChromosome MappingCleft LipCleft PalateFemaleHumansLod ScoreMaleModels, GeneticPedigree

Identifiers

PMID12087515
PMCPMC379167
OpenAlexW2044649561

What OpenQuestion holds

Textmetadata
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.