Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations.
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.
ECLAMC at Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro.|INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro.
Camilla D
CD
Vieira-Machado
INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro.|ECLAMC at LEMC (Laboratory of Congenital Malformations Epidemiology), Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro.
Flavia M
FM
de Carvalho
INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro.|Institute of Biological Sciences, Federal University of Pará, Belém, Pará
Luiz C
LC
Santana da Silva
Institute of Biological Sciences, Federal University of Pará, Belém, Pará
Sidney E
SE
Dos Santos
Speech Therapy Division, Ophir Loyola Hospital, Belém, Pará, Brazil.
Claudia
C
Martins
INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro.|ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires.
Fernando A
FA
Poletta
(In memoriam) ECLAMC at Hospital Zonal El Bolsón, El Bolsón, Argentina.
Juan C
JC
Mereb
Department of Oral Biology and Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.|Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Alexandre R
AR
Vieira
INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro.|ECLAMC at LEMC (Laboratory of Congenital Malformations Epidemiology), Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro.|ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires.
Eduardo E
EE
Castilla
ECLAMC at Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro.|INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro.
Iêda M
IM
Orioli
D001938:Brazil; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005838:Genotype; D006801:Humans; D044465:White People / Q000235:genetics*
INDEL; South American populations; cleft lip and palate; cleft palate; genetic ancestry