Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. 2008

Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
Department of Oral Biology and Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsbergh, PA 15261, USA. arv11@dental.pitt.edu

Recently, the IRF6 contribution that was reported for Van der Woude syndrome and non-syndromic oral clefts was extended to isolated tooth agenesis. Here we report the first study that tries to replicate this finding and we provide further evidence that IRF6 contributes to isolated tooth agenesis. Fifty-two sporadic tooth agenesis cases and their parents were studied. DNA samples were obtained from whole blood or saliva samples. Genotyping was performed by TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the marker alleles were performed. A haplotype involving the most 5'IRF6 markers was associated with sporadic tooth agenesis (p=0.006). An association could still be seen when only cases with at least one missing incisor (p=0.01) and cases with at least one missing premolar (p=0.004) were included in the analysis.

UI MeSH Term Description Entries
D008297 Male Males
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000848 Anodontia Congenital absence of the teeth. It may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), or six or more of the teeth (oligodontia) and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. Dental Agenesis, Familial,Familial Dental Agenesis,Familial Tooth Agenesis,Hypodontia,Oligodontia,Partial Anodontia,Total Anodontia,Hypodontia Oligodontia 1,Tooth Agenesis, Familial,Tooth Agenesis, Selective, 1,Agenesis, Familial Dental,Agenesis, Familial Tooth,Anodontia, Partial,Anodontia, Total,Familial Dental Ageneses,Familial Tooth Ageneses,Oligodontia 1, Hypodontia,Oligodontias,Partial Anodontias,Total Anodontias
D014070 Tooth One of a set of bone-like structures in the mouth used for biting and chewing. Teeth
D014421 Turkey Country in Southeastern Europe and Southwestern Asia bordering the Black Sea, between Bulgaria and Georgia, and bordering the Aegean Sea and the Mediterranean Sea, between Greece and Syria. The capital is Ankara. Turkiye
D015810 Linkage Disequilibrium Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone. Disequilibrium, Linkage,Disequilibriums, Linkage,Linkage Disequilibriums
D050835 Interferon Regulatory Factors A family of transcription factors that share an N-terminal HELIX-TURN-HELIX MOTIF and bind INTERFERON-inducible promoters to control GENE expression. IRF proteins bind specific DNA sequences such as interferon-stimulated response elements, interferon regulatory elements, and the interferon consensus sequence. Interferon Regulatory Factor,IRF Transcription Factors,Factor, Interferon Regulatory,Regulatory Factor, Interferon,Transcription Factors, IRF
D020022 Genetic Predisposition to Disease A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic

Related Publications

Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
January 2005, American journal of human genetics,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
October 2008, American journal of medical genetics. Part A,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
May 1999, Journal of medical genetics,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
July 1996, American journal of human genetics,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
January 2009, Annals of human biology,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
April 1988, Human genetics,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
October 1990, Human genetics,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
March 2001, Human molecular genetics,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
August 1994, Human biology,
Alexandre R Vieira, and Figen Seymen, and Asli Patir, and Renato Menezes
September 2002, American journal of human genetics,
Copied contents to your clipboard!