| Author | Warrington, A. | |
| Author | Vieira, A. R. | |
| Author | Christensen, K. | |
| Author | Orioli, Ieda M. | |
| Author | Castilla, Eduardo E. | |
| Author | Romitti, P. A. | |
| Author | Murray, J. C. | |
| Access date | 2020-02-06T14:42:03Z | |
| Available date | 2020-02-06T14:42:03Z | |
| Document date | 2006 | |
| Citation | WARRINGTON, A. et al. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. Journal of Medical Genetics, v. 43, p.1-6, 2006. | pt_BR |
| ISSN | 0022-2593 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/39771 | |
| Language | eng | pt_BR |
| Publisher | BMJ Publishing Group | pt_BR |
| Rights | restricted access | |
| Subject in Portuguese | Evidência genética | pt_BR |
| Subject in Portuguese | Loci | pt_BR |
| Subject in Portuguese | Fissura labial e palato | pt_BR |
| Title | Genetic evidence for the role of loci at 19q13 in cleft lip and palate | pt_BR |
| Type | Article | |
| DOI | 10.1136/jmg.2005.034785 | |
| Abstract | Background: Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. Methods: Genotype based linkage disequilibrium analysis was conducted using the family based association test (FBAT) and the likelihood ratio test (LRT). We also carried out direct sequencing of the PVR and PVRL2 candidate genes based on their homology to PVRL1, a gene shown previously to cause Margarita Island clefting. Participants included 434 patients with cleft lip with or without cleft palate or cleft palate only and their mothers from eight countries in South America, 205 nuclear triads (father-mother-affected child) from Iowa, 541 nuclear triads from Denmark, and 100 patients with cleft lip and palate from the Philippines. Results: An allelic variant in the PVR gene showed statistically significant association with both South American and Iowa populations (p = 0.0007 and p = 0.0009, respectively). Direct sequencing of PVR and PVRL2 yielded 26 variants, including two rare amino acid changes, one in each gene, which were not seen in controls. Conclusions: We found an association between a common variant in a gene at 19q and isolated clefting in two heterogeneous populations. However, it is unclear from our data if rare variants in PVR and PVRL2 are sufficient to cause clefting in isolation. | pt_BR |
| Affilliation | University of Iowa. Department of Pediatrics. Iowa City, IA, USA. | pt_BR |
| Affilliation | University of Iowa. Department of Pediatrics. Iowa City, IA, USA. | pt_BR |
| Affilliation | University of Southern Denmark. Centre for the Prevention of Congenital Malformations. Odense C, Denmark. | pt_BR |
| Affilliation | Universidade Federal do Rio de Janeiro. Departamento de Genética. Centro Colaborativo Latino Americano para Malformações Congênitas. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Centro Colaborativo Latino Americano para Malformações Congênitas. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | University of Iowa. Department of Epidemiology. Iowa City, IA, USA. | pt_BR |
| Affilliation | University of Iowa. Department of Pediatrics. Iowa City, IA, USA. | pt_BR |
| Subject | Genetic evidence | pt_BR |
| Subject | Loci | pt_BR |
| Subject | Cleft lip and palate | pt_BR |
| e-ISSN | 1468-6244 | |
| Embargo date | 2025-01-01 | |
