2014
DOI: 10.1002/bdra.23204
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Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Abstract: Background: Although genome‐wide association studies have identified several susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations around the world, the role of most loci is unknown in the highly heterogeneous Brazilian population. Methods: To determine the association of 7 markers that showed genome‐wide significant association in Brazilians with NSCL/P, we conducted a structured association study conditioned upon the individual ancestry proportions to evaluate ma… Show more

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Cited by 29 publications
(37 citation statements)
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“…The populations of the two Services have been previously analyzed in respect to ancestry 19 . In the two Services mentioned, the treatment is exclusively done by the Brazilian Public Health System.…”
Section: Methodsmentioning
confidence: 99%
“…The populations of the two Services have been previously analyzed in respect to ancestry 19 . In the two Services mentioned, the treatment is exclusively done by the Brazilian Public Health System.…”
Section: Methodsmentioning
confidence: 99%
“…Indeed, interferon regulatory factor 6 ( IRF6 ) gene and the 8q24 region are the most reliable genetic risk factors for NSCL±P and have been validated in different populations . In previous studies, we have investigated the association of several GWAS‐susceptibility signals in the Brazilian population, confirming some associations, including 8q24 region, and failing to confirm others, such as IRF6 , most probably due to differential frequencies of the risk alleles which are dependent upon ethnicity . Two recent well‐designed GWAS on NSCL±P have been conducted .…”
Section: Introductionmentioning
confidence: 99%
“…As the proportion of African ancestry of the Brazilian population affects the genetic susceptibility to NSCL±P [Brito et al, ; Bagordakis et al, ; de Aquino et al, ; do Rego Borges et al, ; Messetti et al, ; Machado et al, ], and the frequency of risk alleles at some of selected SNP differ according to ethnicity, specially between African and Caucasian populations, we performed similar analyses in the subgroups of samples showing high European ancestry and high African ancestry. In the subgroup with high European ancestry, the average of European ancestry was higher than 90% in both groups (Supplementary Fig.…”
Section: Resultsmentioning
confidence: 99%
“…Indeed, previous studies with PON genotypes and phenotypes in different ethnic populations have revealed significant variations in both allele and haplotype frequencies and enzyme activities [Koda et al, ; Rojas‐García et al, ; Holland et al, ]. The Brazilian population is highly heterogeneous and admixed, a fact that has far‐reaching implications to NSCL±P susceptibility [Brito et al, ; Bagordakis et al, ; de Aquino et al, ; do Rego Borges et al, ; Messetti et al, ; Machado et al, ]. The extent of admixture is well documented in a wealth of population genetic studies in Brazilians, and it is evident that most individuals have significant degrees of European, African, and Amerindian ancestry.…”
Section: Discussionmentioning
confidence: 99%