Please use this identifier to cite or link to this item:
https://www.arca.fiocruz.br/handle/icict/17827
Type
ArticleCopyright
Restricted access
Embargo date
2030-01-01
Collections
- IOC - Artigos de Periódicos [12125]
Metadata
Show full item record
ANALYSIS OF THE GENETIC ANCESTRY OF PATIENTS WITH ORAL CLEFTS FROM SOUTH AMERICAN ADMIXED POPULATIONS
Fenda palatina
Ascendência genética
Populações sul-americanas
Mutação INDEL
Author
Affilliation
Universidade Federal do Rio de Janeiro. Instituto de Biologia. ECLAMC at Departamento de Genética. Rio de Janeiro, RJ, Brasil / INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas e ECLAMC. Rio de Janriro, RJ, Brasil.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Universidade Federal do Pará. Instituto de Ciências Biológicas. Belém, PA, Brasil.
Universidade Federal do Pará. Instituto de Ciências Biológicas. Belém, PA, Brasil.
Hospital Ophir Loyola. Divisão de terapia da Fala. Belém, PA, Brasil.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / ECLAMC at CEMIC (Center for Medical Education and Clinical Research). Beunos Aires, Argentina.
ECLAMC at Hospital Zonal El Bolson. El Bolsón. Argentina.
University of Pittsburgh. School of Dental Medicine. Department of Oral Biology and Pediatric Dentistry. Pittsburgh, PA, USA / University of Pittsburgh. School of Dental Medicine. Pittsburgh, PA, USA.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas e ECLAMC. Rio de Janriro, RJ, Brasil / ECLAMC at CEMIC (Center for Medical Education and Clinical Research). Beunos Aires, Argentina..
Universidade Federal do Rio de Janeiro. Instituto de Biologia. ECLAMC at Departamento de Genética. Rio de Janeiro, RJ, Brasil / INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas e ECLAMC. Rio de Janriro, RJ, Brasil.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Universidade Federal do Pará. Instituto de Ciências Biológicas. Belém, PA, Brasil.
Universidade Federal do Pará. Instituto de Ciências Biológicas. Belém, PA, Brasil.
Hospital Ophir Loyola. Divisão de terapia da Fala. Belém, PA, Brasil.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / ECLAMC at CEMIC (Center for Medical Education and Clinical Research). Beunos Aires, Argentina.
ECLAMC at Hospital Zonal El Bolson. El Bolsón. Argentina.
University of Pittsburgh. School of Dental Medicine. Department of Oral Biology and Pediatric Dentistry. Pittsburgh, PA, USA / University of Pittsburgh. School of Dental Medicine. Pittsburgh, PA, USA.
INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas e ECLAMC. Rio de Janriro, RJ, Brasil / ECLAMC at CEMIC (Center for Medical Education and Clinical Research). Beunos Aires, Argentina..
Universidade Federal do Rio de Janeiro. Instituto de Biologia. ECLAMC at Departamento de Genética. Rio de Janeiro, RJ, Brasil / INAGEMP - Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil.
Abstract
Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations.
Keywords in Portuguese
Fenda labialFenda palatina
Ascendência genética
Populações sul-americanas
Mutação INDEL
Share