DOI: 10.25550/1-50dt
title: OFC4: Genetics of Orofacial Clefts and Related Phenotypes

description: [**Link to projects pages of OFC4: Genetics of Orofacial Clefts and Related Phenotypes**](http://www.facebase.org/hgai/OFC4.html) dbGaP Study Accession: [phs000774.v2.p1.](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000774.v2.p1) Principal Investigator: [Mary L. Marazita](https://www.dental.pitt.edu/person/mary-l-marazita), University of Pittsburgh, Pittsburgh, PA, USA Funding Sources: X01-HG007485 Genetics of Orofacial Clefts and Related Phenotypes. National Human Genome Research Institute, CIDR Genotyping, National Institutes of Health, Bethesda, MD, USA R01-DE-016148, Extending the Phenotype of Nonsyndromic Orofacial Clefts. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE-012472, HOMOZYGOSITY MAPPING OF ORAL-FACIAL CLEFTS IN TURKEY. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE-009886, GENE MAPPING STUDIES OF ORAL/FACIAL CLEFTS - CHINA/INDIA. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA P50-DE-016215, CRANIOFACIAL ANOMALIES RESEARCH CENTER. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA K99-DE-022378, GENETIC STUDIES OF NONSYNDROMIC CLEFTS IN POPULATIONS OF AFRICAN DESCENT. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R37-DE-008559, MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE-014667, CLEFT LIP GENETICS: A MULTI CENTER INTERNATIONAL CONSORTIUM. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DD-000295, HEALTH OUTCOMES AND IMPROVED PHENOTYPIC CHARACTERIZATION OF CLEFT LIP AND PALATE. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA R21-DE-016930, PLANNING INTERNATIONAL OROFACIAL CLEFT GENETIC STUDIES. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA The current study is the culmination of many years of ongoing collaborations among the study investigators (for complete list of investigators, see [dbGaP](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000774.v1.p1#attribution-section)). Molecular genetic studies of orofacial clefts (OFC) by members of this research consortium began in the 1980's, followed by genome-wide linkage studies in the 1990's-early 2000's, and then genome-wide association studies in the 2010's. A rich phenotyping approach was first added to the consortium in 1999 as a project led by Dr. Mary Marazita under a center grant headed by Dr. Jeff Murray. Additional sites were added throughout the 2000's, until multiple populations and a large number of individuals (~12,000) comprise the current study population for genetic studies of OFCs and related subclinical phenotypes—subtle features believed to represent mild manifestations of the same underlying genetic susceptibility responsible for OFCs. As such, their inclusion in case-control and family-based genetic studies can help to clarify and refine the relationship between genotype and phenotype. 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=phs000774.v1.p1). Click [here](/hgai/OFC4.html) to access the data and results for this dataset.