Evidence map›Paper›PMID 18716610›Full record

ArticleEuropean journal of human genetics : EJHG2009

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

Brett T Chiquet, Syed S Hashmi, Robin Henry, Amber Burt, John B Mulliken, Samuel Stal, Molly Bray, Susan H Blanton, Jacqueline T Hecht

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
3.2field-weighted citation impact, top 8% 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

23 citing papers in PubMed, 49 citations in OpenAlex.

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  20. Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.Birth defects research. Part A, Clinical and molecular teratology · 2011
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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

9 authors at 5 institutions in 1 country.

Brett T ChiquetDepartment of Pediatrics, University of Texas Medical School at Houston, Houston, TX 77225, USA.
Syed S Hashmi
Robin Henry
Amber Burt
John B Mulliken
Samuel Stal
Molly Bray
Susan H Blanton
Jacqueline T Hecht
Texas Medical Center · USUniversity of Miami · USBaylor College of Medicine · USBoston Children's Hospital · USTexas Children's Hospital · US

Funding

MOLECULAR STUDIES IN NONSYNDROMIC CLEFT LIP AND PALATER01DE011931 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BLANTON, SUSAN HALLORAN, HECHT, JACQUELINE T · 1999 to 2017
$7.6M
UT-H Comprehensive Research Training ProgramT32DE015355 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI STANCEL, GEORGE M. · 2003 to 2007
$3.2M
Characterization of NSCLP gene CRISPLD2F30DE019343 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CHIQUET, BRETT THOMAS · 2008 to 2010
$109k
NIDCR NIH HHS F30 DE019343NIDCR NIH HHS R01 DE011931NIDCR NIH HHS R01-DE011931NIDCR NIH HHS T32 DE015355NIDCR NIH HHS T32-DE015355-05
6 · The paper itself

Abstract

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth anomaly that requires prolonged multidisciplinary rehabilitation. Although variation in several genes has been identified as contributing to NSCLP, most of the genetic susceptibility loci have yet to be defined. To identify additional contributory genes, a high-throughput genomic scan was performed using the Illumina Linkage IVb Panel platform. We genotyped 6008 SNPs in nine non-Hispanic white NSCLP multiplex families and a single large African-American NSCLP multiplex family. Fourteen chromosomal regions were identified with LOD>1.5, including six regions not previously reported. Analysis of the data from the African-American and non-Hispanic white families revealed two likely chromosomal regions: 8q21.3-24.12 and 22q12.2-12.3 with LOD scores of 2.98 and 2.66, respectively. On the basis of biological function, syndecan 2 (SDC2) and growth differentiation factor 6 (GDF6) in 8q21.3-24.12 and myosin heavy-chain 9, non-muscle (MYH9) in 22q12.2-12.3 were selected as candidate genes. Association analyses from these genes yielded marginally significant P-values for SNPs in SDC2 and GDF6 (0.01<or=P<0.05). Evidence for an altered transmission was found for four MYH9 SNPs (P<0.01). SNP rs1002246 exhibited altered transmission by all analytic methods. However, analysis of two SNP MYH9 haplotypes did not identify a single high-risk haplotype. Our results confirm a previous report that 8q21.3-24.12 may harbor a clefting gene and identify 22q12.2-12.3 as a new candidate region that contains MYH9. Most importantly, we confirm the previous report of an association with MYH9.

Indexed as

Cleft LipCleft PalateFemaleHumansMaleMolecular Motor ProteinsMyosin Heavy ChainsPedigreePolymorphism, Single NucleotideMolecular Motor ProteinsMYH9 protein, humanMyosin Heavy Chains

Identifiers

PMID18716610
PMCPMC2874967
OpenAlexW1981927232

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.