Document Detail

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.
MedLine Citation:
PMID:  15558496     Owner:  NLM     Status:  MEDLINE    
Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects, but its etiology is largely unknown. It is very likely that both genetic and environmental factors contribute to this malformation. Mutations in the gene for interferon regulatory factor 6 (IRF6) have been shown to be the cause of Van der Woude syndrome, a dominant disorder that has CL/P as a common feature. Recently, it has been reported that genetic polymorphisms at the IRF6 locus are associated with nonsyndromic CL/P, with stronger association in Asian and South American populations. We investigated four markers spanning the IRF6 locus, using the transmission/disequilibrium test. A sample of 219 Italian triads of patients and their parents were enrolled in the study. Strong evidence of linkage disequilibrium was found between markers and disease in both single-allele (P=.002 at marker rs2235375) and haplotype (P=.0005) analyses. These findings confirm the contribution of IRF6 in the etiology of nonsyndromic CL/P and strongly support its involvement in populations of European ancestry.
Luca Scapoli; Annalisa Palmieri; Marcella Martinelli; Furio Pezzetti; Paolo Carinci; Mauro Tognon; Francesco Carinci
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2004-11-19
Journal Detail:
Title:  American journal of human genetics     Volume:  76     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2005 Jan 
Date Detail:
Created Date:  2004-12-06     Completed Date:  2005-01-25     Revised Date:  2012-02-22    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  180-3     Citation Subset:  IM    
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, Via Fossato di Mortara 64/B, 44100 Ferrara, Italy.
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MeSH Terms
Cleft Lip / genetics*
Cleft Palate / genetics*
DNA-Binding Proteins / genetics*
Genetic Predisposition to Disease
Interferon Regulatory Factor-1
Interferon-gamma / genetics
Linkage Disequilibrium
Phosphoproteins / genetics*
Polymorphism, Genetic*
Transcription Factors / genetics
Grant Support
Reg. No./Substance:
0/DNA-Binding Proteins; 0/IRF1 protein, human; 0/Interferon Regulatory Factor-1; 0/Phosphoproteins; 0/Transcription Factors; 82115-62-6/Interferon-gamma

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