Candidate genes for oral-facial clefts in Guatemalan families

• Published in: Annals of plastic surgery Vol. 56; no. 5; pp. 518 - 521
• Main Authors: Neiswanger, Katherine, Deleyiannis, Frederic W B, Avila, Joseph R, Cooper, Margaret E, Brandon, Carla A, Vieira, Alexandre R, Noorchashm, Negin, Weinberg, Seth M, Bardi, Kathleen M, Murray, Jeffrey C, Marazita, Mary L
• Format: Journal Article
• Language: English
• Published: United States 01-05-2006
• Subjects: 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; Guatemala
• ISSN: 0148-7043
• DOI: 10.1097/01.sap.0000210261.65455.9d

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.