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Genomic Studies




The Center for Craniofacial and Dental Genetics (CCDG) is a collaborator in several large-scale, National Institutes of Health (NIH)-sponsored genomic studies including the Gene Environment Association Studies Initiative (GENEVA) and genome-wide association study (GWAS) initiatives to better understand the genetics of dental caries and oral clefts.  Genotype and phenotype datasets from these studies are available to investigators around the world through the NIH’s dbGaP (Database of Genotypes and Phenotypes).   

Studies include:        

GENEVA Consortium: Center for Craniofacial and Dental Genetics: Study of Dental Caries and Cleft Lip/Palate in Guatemala (dbGaP Study Accession: phs000440.v1.p1)


GENEVA Consortium: International Consortium to Identify Genes and Interactions Controlling Oral Clefts (dbGaP Study Accession: phs000094.v1.p1)


GENEVA Consortium: Genome-Wide Association Studies of Prematurity and Its Complications (African American) (dbGaP Study Accession: phs000353.v1.p1)


Dental Caries: Whole Genome Association and Gene x Environment Studies (dbGaP Study Accession: phs000095.v3.p1)


Targeted Sequencing Oral Facial Clefts (dbGaP Study Accession: phs000625.v1.p1)


Oral Facial Clefts Multiethnic GWAS (dbGaP Study Accession: phs000774.v1.p1)


Normal Human Facial Variation GWAS (dbGaP Study Accession: phs000949.v1.p1)


Gabriella Miller Kids First Program: Genomic Studies of Orofacial Cleft Birth Defects (dbGap Study Accession information coming soon)


In conjunction with the FaceBase consortium, the CCDG has also developed and made available the Human Genomics Analysis Tool to explore the results from these studies. 


Highlighted Results from Genomic Studies

Replicated (MPPED2, chr11)

Replicated (ACTN2, chr1)

GENEVA Orofacial Cleft GWAS Results



GENEVA Dental Caries Study Results:

MPPED2 (Metallophosphoesterase Domain Containing 2):

1) Only in children, both white and black; and
2)  No known role in caries; expression decreased
in oral epithelial cell lines exposed to bacterial pathogens



GENEVA Dental Caries Study Results:

ACTN2 (Actinin, alpha 2):
1) Both children and adults, both white and black; and
2) Thought to regulate and organize ameloblasts during
tooth development













Select any of the above graphics to view enlargements.