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

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dc.contributor.author Brito, Luciano A.
dc.contributor.author Cruz, Lucas A.
dc.contributor.author Rocha, Katia M.
dc.contributor.author Barbara, Ligia K.
dc.contributor.author Silva, Camila B. F.
dc.contributor.author Bueno, Daniela F.
dc.contributor.author Aguena, Meire
dc.contributor.author Bertola, Debora R.
dc.contributor.author Franco, Diogo
dc.contributor.author Costa, Andre M.
dc.contributor.author Alonso, Nivaldo
dc.contributor.author Otto, Paulo A.
dc.contributor.author Passos-Bueno, Maria Rita
dc.date.accessioned 2016-01-24T14:16:56Z
dc.date.available 2016-01-24T14:16:56Z
dc.date.issued 2011-07-01
dc.identifier http://dx.doi.org/10.1002/ajmg.a.34036
dc.identifier.citation American Journal of Medical Genetics Part A. Malden: Wiley-Blackwell, v. 155A, n. 7, p. 1581-1587, 2011.
dc.identifier.issn 1552-4825
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/33839
dc.description.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. en
dc.description.sponsorship Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorship Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorship Brazilian Ministry of Health
dc.format.extent 1581-1587
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof American Journal of Medical Genetics Part A
dc.rights Acesso restrito
dc.subject non-syndromic cleft lip with or without cleft palate en
dc.subject complex disease en
dc.subject heritability en
dc.subject consanguinity en
dc.subject ancestry contribution en
dc.subject recurrence risk en
dc.title 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 en
dc.type Artigo
dc.rights.license http://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Universidade Federal do Rio de Janeiro (UFRJ)
dc.contributor.institution Univ Hlth Sci Alagoas
dc.description.affiliation Univ São Paulo, Human Genome Res Ctr, Inst Biosci, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Sch Med, Genet Unit, Dept Pediat,Children Inst, São Paulo, Brazil
dc.description.affiliation Univ Fed Rio de Janeiro, Sch Med, Dept Plast Surg, Rio de Janeiro, Brazil
dc.description.affiliation Univ Hlth Sci Alagoas, Div Plast Surg, Maceio, Brazil
dc.description.affiliation Univ São Paulo, Div Plast Surg, Dept Surg, Sch Med, São Paulo, Brazil
dc.identifier.doi 10.1002/ajmg.a.34036
dc.description.source Web of Science
dc.identifier.wos WOS:000291944700015



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