Genetic Contribution for Non-Syndromic Cleft Lip With or Without Cleft Palate (NS CL/P) in Different Regions of Brazil and Implications for Association Studies

Genetic Contribution for Non-Syndromic Cleft Lip With or Without Cleft Palate (NS CL/P) in Different Regions of Brazil and Implications for Association Studies

Author Brito, Luciano A. Google Scholar
Cruz, Lucas A. Google Scholar
Rocha, Katia M. Google Scholar
Barbara, Ligia K. Google Scholar
Silva, Camila B. F. Google Scholar
Bueno, Daniela F. Google Scholar
Aguena, Meire Google Scholar
Bertola, Debora R. Google Scholar
Franco, Diogo Google Scholar
Costa, Andre M. Google Scholar
Alonso, Nivaldo Google Scholar
Otto, Paulo A. Google Scholar
Passos-Bueno, Maria Rita Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal do Rio de Janeiro (UFRJ)
Univ Hlth Sci Alagoas
Abstract Non-syndromic cleft lip with or without cleft palate (NS CL/P) is a complex disease in which heritability estimates vary widely depending on the population studied. To evaluate the importance of genetic contribution to NS CL/P in the Brazilian population, we conducted a study with 1,042 families from five different locations (Santarem, Fortaleza, Barbalha, Maceio, and Rio de Janeiro). We also evaluated the role of consanguinity and ethnic background. the proportion of familial cases varied significantly across locations, with the highest values found in Santarem (44%) and the lowest in Maceio (23%). Heritability estimates showed a higher genetic contribution to NS CL/P in Barbalha (85%), followed by Santarem (71%), Rio de Janeiro (70%), Fortaleza (64%), and Maceio (45%). Ancestry was not correlated with the occurrence of NS CL/P or with the variability in heritability. Only in Rio de Janeiro was the coefficient of inbreeding significantly larger in NS CL/P families than in the local population. Recurrence risk for the total sample was approximately 1.5-1.6%, varying according to the location studied (0.6-0.7% in Maceio to 2.2-2.8% in Barbalha). Our findings show that the degree of genetic contribution to NS CL/P varies according to the geographic region studied, and this difference cannot be attributed to consanguinity or ancestry. These findings suggest that Barbalha is a promising region for genetic studies. the data presented here will be useful in interpreting results from molecular analyses and show that care must be taken when pooling samples from different populations for association studies. (C) 2011 Wiley-Liss, Inc.
Keywords non-syndromic cleft lip with or without cleft palate
complex disease
heritability
consanguinity
ancestry contribution
recurrence risk
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Brazilian Ministry of Health
Date 2011-07-01
Published in American Journal of Medical Genetics Part A. Malden: Wiley-Blackwell, v. 155A, n. 7, p. 1581-1587, 2011.
ISSN 1552-4825 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 1581-1587
Origin http://dx.doi.org/10.1002/ajmg.a.34036
Access rights Closed access
Type Article
Web of Science ID WOS:000291944700015
URI http://repositorio.unifesp.br/handle/11600/33839

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