Novel genome-wide association study risk loci for nonsyndromic orofacial clefts

At the 96th General Session of the International Association for Dental Research (IADR), held in conjunction with the IADR Pan European Regional (PER) Congress, Azeez Butali, University of Iowa, Iowa City, USA, gave an oral presentation titled "Novel Genome-wide Association Study Risk Loci for Nonsyndromic Orofacial Clefts." The IADR/PER General Session & Exhibition is in London, England at the ExCeL London Convention Center from July 25-28, 2018.

Butali and co-authors conducted the first genome-wide association study (GWAS) for orofacial clefts in Africa to identify novel risk loci for non-syndromic orofacial clefts.

Over 3,300 participants were genotyped using the Illumina Multi Ethnic Genotyping Array and over 45million Single nucleotide polymorphisms (SNPs) were imputed. The GWAS for cleft lip and palate showed that the most significant hits were on chromosomes 8 and 3. The chromosome 8 leading SNP has been previously reported to be associated with cleft lip and palate in Europeans. The GWAS for isolated cleft palate revealed one genome-wide significant locus on chromosome 2, four novel loci that are close to GWAS. Further sub-phenotype analyses also identified a near significant locus around Chr10 for cleft lip only.

This study has refined the genetic architecture of orofacial clefts in Africa, identified new loci and demonstrated genetic heterogeneity for the cleft sub-phenotypes. These findings can provide additional insights into craniofacial development and biology.

Provided by International & American Associations for Dental Research