Journal article
Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts
Genetics in medicine, Vol.10(9), pp.668-674
09/01/2008
DOI: 10.1097/GIM.0b013e3181833793
PMCID: PMC2734954
PMID: 18978678
Abstract
Purpose: We revisited 42 families with two or more cleft-affected siblings who participated in previous studies. Complete dental information was collected to test the hypothesis that dental anomalies are part of the cleft phenotype spectrum, and can provide new opportunities for identification of cleft susceptibility genes. Methods: Genotypes from 1489 single nucleotide polymorphism markers located in 150 candidate genes/loci were reanalyzed. Two sets of association analyses were carried out. First, we ran the analysis solely on the cleft status. Second, we assigned affection to any cleft or dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) and repeated the analysis. Results: Significant over-transmission was seen for a single nucleotide polymorphism in ankyrin repeat and sterile alpha motif domain containing 6 (rs4742741, 9q22.33; P = 0.0004) when a dental anomaly phenotype was included in the analysis. Significant over-transmission was also seen for a single nucleotide polymorphism in ERBB2 (rs1810132, 17q21.1; P = 0.0006). In the clefts only data, the most significant result was also for ERB82 (P = 0.0006). Other markers with suggestive P values included interferon regulatory factor 6 and 6q21-q23 loci. In contrast to the above results, suggestive over-transmission of markers in GART, DPF3, and neurexin 3 were seen only when the dental anomaly phenotype was included in the analysis. Conclusions: These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Thus, including dental anomalies information in the genetics analysis of cleft lip and palate will provide new opportunities to map susceptibility loci for clefts.
Details
- Title: Subtitle
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts
- Creators
- Alexandre R. Vieira - Univ Pittsburgh, Dept Oral Biol, Sch Dent Med, Pittsburgh, PA 15261 USAToby G. McHenry - Univ Pittsburgh, Dept Oral Biol, Sch Dent Med, Pittsburgh, PA 15261 USASandra Daack-Hirsch - University of Iowa, NursingJeffrey C. Murray - University of Iowa, Dental ResearchMary L. Marazita - University of Pittsburgh
- Resource Type
- Journal article
- Publication Details
- Genetics in medicine, Vol.10(9), pp.668-674
- DOI
- 10.1097/GIM.0b013e3181833793
- PMID
- 18978678
- PMCID
- PMC2734954
- NLM abbreviation
- Genet Med
- ISSN
- 1098-3600
- eISSN
- 1530-0366
- Publisher
- Springer Nature
- Number of pages
- 7
- Grant note
- P50DE016215 / NATIONAL INSTITUTE OF DENTAL &CRANIOFACIAL RESEARCH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR) N01-HG-65403 / CIDR NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA R01DE016148 / NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR) N01HG065403 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) R21-DE016718; R37-DE08559; R01-DE016148; P50-DE016215 / NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA
- Language
- English
- Date published
- 09/01/2008
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Fraternal Order of Eagles Diabetes Research Center; Public Policy Center (Archive); Dental Research
- Record Identifier
- 9983557698802771
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