Journal article
Genetics of nonsyndromic orofacial clefts
The Cleft palate-craniofacial journal, Vol.49(1), pp.73-91
01/2012
DOI: 10.1597/10-178
PMCID: PMC3437188
PMID: 21545302
Abstract
With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts are the most common craniofacial birth defects in humans. Like other complex disorders, these birth defects are thought to result from the complex interplay of multiple genes and environmental factors. Significant progress in the identification of underlying genes and pathways has benefited from large populations available for study, increased international collaboration, rapid advances in genotyping technology, and major improvements in analytic approaches. Here we review recent advances in genetic epidemiological approaches to complex traits and their applications to studies of nonsyndromic orofacial clefts. Our main aim is to bring together a discussion of new and previously identified candidate genes to create a more cohesive picture of interacting pathways that shape the human craniofacial region. In future directions, we highlight the need to search for copy number variants that affect gene dosage and rare variants that are possibly associated with a higher disease penetrance. In addition, sequencing of protein-coding regions in candidate genes and screening for genetic variation in noncoding regulatory elements will help advance this important area of research.
Details
- Title: Subtitle
- Genetics of nonsyndromic orofacial clefts
- Creators
- Fedik Rahimov - Interdisciplinary Ph.D. Program in Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa, USAAstanand JugessurJeffrey C Murray
- Resource Type
- Journal article
- Publication Details
- The Cleft palate-craniofacial journal, Vol.49(1), pp.73-91
- DOI
- 10.1597/10-178
- PMID
- 21545302
- PMCID
- PMC3437188
- NLM abbreviation
- Cleft Palate Craniofac J
- ISSN
- 1055-6656
- eISSN
- 1545-1569
- Publisher
- United States
- Grant note
- P30 ES05606 / NIEHS NIH HHS P50 DE16215 / NIDCR NIH HHS P50 DE016215 / NIDCR NIH HHS R37 DE08559 / NIDCR NIH HHS R37 DE008559-22 / NIDCR NIH HHS P50 DE016215-04 / NIDCR NIH HHS R37 DE008559 / NIDCR NIH HHS R37 DE008559-21 / NIDCR NIH HHS P50 DE016215-04S1 / NIDCR NIH HHS P50 DE016215-05 / NIDCR NIH HHS
- Language
- English
- Date published
- 01/2012
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025417402771
Metrics
24 Record Views