DOI: 10.25550/1-50dp
title: OFC3: GWAS of OFCs in Guatemala

description: [**Link to project pages of OFC3: GWAS of OFCs in Guatemala**](http://www.facebase.org/hgai/OFC3.html) [dbGaP Study Accession: phs000440.v1.p1](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000440.v1.p1) Principal Investigator: [Mary Marazita](https://www.dental.pitt.edu/person/mary-l-marazita), University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA Funding Sources: U01-DE018903, Dental Caries: Whole Genome Association and Gene x Environment Studies. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R21-DE016930, Planning International Orofacial Cleft Genetic Studies. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE016148, Extending the phenotype of nonsyndromic orofacial clefts. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE014899, Factors contributing to oral health disparities in Appalachia. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA This study from the University of Pittsburgh’s [Center for Craniofacial and Dental Genetics](https://www.dental.pitt.edu/center-craniofacial-and-dental-genetics) provides an opportunity to investigate the genetics of orofacial clefts (OFCs) in one set of families ascertained in Guatemala. Orofacial clefts (OFCs), particularly cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP) are a major public health problem, affecting one in every 500-1000 births worldwide thus representing the most common facial birth defect and one of the most common of all congenital anomalies. CL/P is a major structural birth defect that is notable for significant lifelong morbidity and complex etiology. The extensive psychological, surgical, speech and dental involvement emphasize the importance of understanding the underlying causes of CL/P. Therefore, many research groups have attempted to elucidate the etiology of CL/P, with some recent success by our research group and others (see Beaty et al., 2010, 2011; Dixon et al., 2011). It is clear that CL/P can occur as part of Mendelian syndromes, that certain chromosomal abnormalities include CL/P in the phenotype, and that certain teratogens can increase the risk of having an offspring with CL/P. However, phenotypes of known etiology comprise only a small portion of all individuals with a CL/P or CP, and the major focus of research into OFCs is to develop an understanding of the etiology of nonsyndromic (NS) forms of clefting. This study is part of the Gene Environment Association Studies initiative ([GENEVA](https://www.genome.gov/27541319/gene-environment-association-studes-geneva/)), which was developed through the trans-NIH Genes, Environment, and Health Initiative (GEI). A genome-wide panel of 610,000 SNPs was genotyped at the Broad Institute to be comparable to our other pertinent GENEVA studies that are also part of dbGaP (dbGaP accession number phs000095, "Dental Caries: Whole Genome Association and Gene x Environment Studies" and dbGaP accession number phs000094, "International Consortium to Identify Genes and Interactions Controlling Oral Clefts"). The goal of this study is to investigate genetic determinants to OFCs in a novel study population. To date, most genetic studies of OFCs in Caucasians and Asians. The Guatemalan population under study is rural and ethnically mixed with a high proportion of Native-South-Americans. Thirty-six Guatemalans from this dataset were also part of the recent GWAS studies of cleft lip and cleft palate (Beaty et al., 2010 and 2011, dbGaP Study Accession: phs000094, "International Consortium to Identify Genes and Interactions Controlling Oral Clefts"). Genotyping was performed at the Broad Institute of MIT and Harvard. The study was supported by the National Institute of Dental and Craniofacial Research (NIDCR, U01-DE018903). Data cleaning and harmonization were done at the GEI-funded GENEVA Coordinating Center at the University of Washington. Information on how to obtain individual level data is available on [dbGaP](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000440.v1.p1). Click [here](/hgai/OFC3.html) to access the data and results for this dataset.