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Candidate genes for oral-facial clefts in Guatemalan families

Neiswanger, K and Deleyiannis, FWB and Avila, JR and Cooper, ME and Brandon, CA and Vieira, AR and Noorchashm, N and Weinberg, SM and Bardi, KM and Murray, JC and Marazita, ML (2006) Candidate genes for oral-facial clefts in Guatemalan families. Annals of Plastic Surgery, 56 (5). 518 - 521. ISSN 0148-7043

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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. Copyright © 2006 by Lippincott Williams & Wilkins.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Neiswanger, K
Deleyiannis, FWB
Avila, JR
Cooper, ME
Brandon, CA
Vieira, ARarv11@pitt.eduARV11
Noorchashm, N
Weinberg, SM
Bardi, KM
Murray, JC
Marazita, MLmarazita@pitt.eduMARAZITA
Date: 1 May 2006
Date Type: Publication
Journal or Publication Title: Annals of Plastic Surgery
Volume: 56
Number: 5
Page Range: 518 - 521
DOI or Unique Handle: 10.1097/
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0148-7043
MeSH Headings: Chromosome Aberrations; Cleft Lip--ethnology; Cleft Lip--genetics; Cleft Lip--surgery; Cleft Palate--ethnology; Cleft Palate--genetics; Cleft Palate--surgery; Guatemala; Humans; Receptors, Estrogen--genetics
PubMed ID: 16641627
Date Deposited: 20 Sep 2012 20:35
Last Modified: 20 Feb 2020 13:55


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