Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region

Rebecca L Slayton; Laura Williams; Jeffrey C Murray; James J Wheeler; Andrew C Lidral; Carla J Nishimura

doi:10.1597/1545-1569(2003)040<0274:GASOCL>2.0.CO;2

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Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region

Journal article

Open access

Peer reviewed

Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region

Rebecca L Slayton, Laura Williams, Jeffrey C Murray, James J Wheeler, Andrew C Lidral and Carla J Nishimura

The Cleft palate-craniofacial journal, Vol.40(3), pp.274-279

05/2003

DOI: 10.1597/1545-1569(2003)040<0274:GASOCL>2.0.CO;2

PMCID: PMC2752356

PMID: 12733956

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https://www.ncbi.nlm.nih.gov/pmc/articles/2752356View

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Abstract

The purpose of this study was to determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with hypodontia outside the region of the cleft. One hundred twenty subjects from the Iowa Craniofacial Anomalies Research Center were selected based on the availability of both dental records and genotype information. The type of orofacial clefting and type and location of dental anomalies (missing teeth, supernumerary teeth, or peg laterals) were assessed by dental chart review and radiographic examination. Genotype analysis of candidate genes was performed using polymerase chain reaction/single-strand conformation polymorphism analysis. The prevalence of hypodontia in this sample was 47.5%, with 30.0% of subjects having missing teeth outside the cleft. There was a positive association between subjects with cleft lip or cleft lip and palate who had hypodontia outside the cleft region (compared with noncleft controls) and both muscle segment homeo box homolog 1 (MSX1) (p =.029) and transforming growth factor beta 3 (TGFB3) (p =.024). It was not possible in this analysis to determine whether this association was specifically associated with orofacial clefting combined with hypodontia or whether it was due primarily to the clefting phenotype. In this sample, there was a significantly greater incidence of hypodontia outside the cleft region in subjects with cleft lip and palate, compared with cleft lip only or cleft palate only. Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls.

Genetic Markers

Polymerase Chain Reaction

Anodontia - complications

Gene Frequency

Humans

Cleft Palate - genetics

Transcription Factors - genetics

Chi-Square Distribution

DNA-Binding Proteins - genetics

MSX1 Transcription Factor

Homeodomain Proteins - genetics

Transforming Growth Factor alpha - genetics

Anodontia - genetics

Polymorphism, Single-Stranded Conformational

Cleft Lip - genetics

Transforming Growth Factor beta - genetics

Statistics, Nonparametric

Cleft Palate - complications

Cleft Lip - complications

Transforming Growth Factor beta3

Child

PAX9 Transcription Factor

Details

Title: Subtitle: Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region
Creators: Rebecca L Slayton - Department of Pediatric Dentistry, Oregon Health and Science University School of Dentistry, SD 182, 611 SW Campus Drive, Portland, OR 97239, USA. slaytonr@ohsu.edu
Laura Williams
Jeffrey C Murray
James J Wheeler
Andrew C Lidral
Carla J Nishimura
Resource Type: Journal article
Publication Details: The Cleft palate-craniofacial journal, Vol.40(3), pp.274-279
DOI: 10.1597/1545-1569(2003)040<0274:GASOCL>2.0.CO;2
PMID: 12733956
PMCID: PMC2752356
NLM abbreviation: Cleft Palate Craniofac J
ISSN: 1055-6656
eISSN: 1545-1569
Publisher: United States
Grant note: R01 DE014667-04 / NIDCR NIH HHS K02 DE015291-03 / NIDCR NIH HHS R01 DE008559 / NIDCR NIH HHS P60 DE 13076 / NIDCR NIH HHS K02 DE015291-04 / NIDCR NIH HHS P60 DE013076 / NIDCR NIH HHS R01 DE014667-03 / NIDCR NIH HHS R01 DE014667-02 / NIDCR NIH HHS R01 DE014667 / NIDCR NIH HHS K02 DE015291 / NIDCR NIH HHS K02 DE015291-01 / NIDCR NIH HHS R01 DE014667-07 / NIDCR NIH HHS R37 DE008559 / NIDCR NIH HHS R01 DE014667-01 / NIDCR NIH HHS DE 08559 / NIDCR NIH HHS R01 DE014667-05 / NIDCR NIH HHS K02 DE015291-05 / NIDCR NIH HHS K02 DE015291-02 / NIDCR NIH HHS R01 DE014667-08 / NIDCR NIH HHS
Language: English
Date published: 05/2003
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Otolaryngology
Record Identifier: 9984025409702771

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