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Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

Vieira, AR and McHenry, TG and Daack-Hirsch, S and Murray, JC and Marazita, ML (2008) Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Genetics in Medicine, 10 (9). 668 - 674. ISSN 1098-3600

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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 ERBB2 (P = 0.0006). Other markers with suggestive P values included interferon regulatory factor 6 and 6q21q23 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. Copyright © American College of Medical Genetics.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
McHenry, TG
Daack-Hirsch, S
Murray, JC
Marazita, MLmarazita@pitt.eduMARAZITA
Date: 1 September 2008
Date Type: Publication
Journal or Publication Title: Genetics in Medicine
Volume: 10
Number: 9
Page Range: 668 - 674
DOI or Unique Handle: 10.1097/gim.0b013e3181833793
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1098-3600
MeSH Headings: Cleft Lip--genetics; Cleft Palate--genetics; Genome, Human; Genotype; Humans; Linkage Disequilibrium; Phenotype; Polymorphism, Single Nucleotide; Tooth Abnormalities--genetics
Other ID: NLM NIHMS127805, NLM PMC2734954
PubMed Central ID: PMC2734954
PubMed ID: 18978678
Date Deposited: 20 Sep 2012 20:23
Last Modified: 20 Feb 2020 13:55


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