Journal article
Candidate genes for oral-facial clefts in Guatemalan families
Annals of plastic surgery, Vol.56(5), pp.518-521
05/2006
DOI: 10.1097/01.sap.0000210261.65455.9d
PMID: 16641627
Abstract
Nonsyndromic cleft lip +/- cleft palate (CL/P) is a complex trait of unknown etiology. Most genetic studies of CL/P define affection status in a way that ignores subtle subclinical manifestations, resulting in a potential loss of statistical power. This study investigated 10 candidate genes in 155 individuals from 25 Guatemalan CL/P families. High-resolution ultrasound images of the orbicularis oris (OO) muscle were obtained. CL/P was present in 28 family members; an additional 10 had subcutaneous OO muscle defects. Family-based association studies were performed for both narrow (CL/P only) and broad (CL/P plus OO muscle defects) definitions of affection status. PVRL1 was significantly associated under both definitions (P = 0.04, narrow; P = 0.02, broad). Association with JAG2 improved from P = 0.09 under the narrow definition to P = 0.04 under the broad definition. Broadening the oral-facial cleft phenotype to include subclinical variants may improve power in genetic studies.
Details
- Title: Subtitle
- Candidate genes for oral-facial clefts in Guatemalan families
- Creators
- Katherine Neiswanger - Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA 15219, USA. neiswank@sdmgenetics.pitt.eduFrederic W B DeleyiannisJoseph R AvilaMargaret E CooperCarla A BrandonAlexandre R VieiraNegin NoorchashmSeth M WeinbergKathleen M BardiJeffrey C MurrayMary L Marazita
- Resource Type
- Journal article
- Publication Details
- Annals of plastic surgery, Vol.56(5), pp.518-521
- DOI
- 10.1097/01.sap.0000210261.65455.9d
- PMID
- 16641627
- NLM abbreviation
- Ann Plast Surg
- ISSN
- 0148-7043
- eISSN
- 1536-3708
- Publisher
- United States
- Grant note
- DE016215 / NIDCR NIH HHS DE08559 / NIDCR NIH HHS DE13076 / NIDCR NIH HHS R01 DE016148 / NIDCR NIH HHS DE016148 / NIDCR NIH HHS
- Language
- English
- Date published
- 05/2006
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025472902771
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