CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country

Faucz, Fábio R.; Souza, Denise Andréa Silva de; Olandoski, Márcia; Raskin, Salmo

doi:10.1038/jhg.2009.123

Cited by 14 publications

(15 citation statements)

References 44 publications

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“…( 22 , 23 ) In an analysis of Brazilian patients with CF, one group of authors showed that p.F508del and four other mutations (p.G542X, p.N1303K, p.G551D, and p.R553X) accounted for 56% of CF alleles. ( 24 ) The spectrum of CF mutations in Brazil indicates a strong European influence, being particularly similar to that in the Italian population.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis

Dal'Maso¹,

Mallmann²,

Siebert³

et al. 2013

J. bras. pneumol.

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OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics. RESULTS: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S. CONCLUSIONS: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.

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Section: Discussionmentioning

confidence: 99%

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis

Dal'Maso¹,

Mallmann²,

Siebert³

et al. 2013

J. bras. pneumol.

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“…First, 47•7% of the population are Brasileiros brancos, or ‘white Brazilians’ of European descent [8]. This results in significant CF incidence and carriership rate [9]. Second, Brazil is one of the 22 WHO-designated ‘high burden countries’ for TB [10].…”

Section: Introductionmentioning

confidence: 99%

Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory

Bosch

Boeck

et al. 2017

BMC Infect Dis

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BackgroundThe reason why Cystic Fibrosis (CF) is the most common fatal genetic disease among Caucasians has been incompletely studied. We aimed at deepening the hypothesis that CF carriers have a relative protection against Mycobacterium tuberculosis (Mtb) infection.MethodsApplying spatial epidemiology, we studied the link between CF carriership rate and tuberculosis (TB) incidence in Brazil. We corrected for 5 potential environmental and 2 immunological confounders in this relation: monthly income, sanitary provisions, literacy rates, racial composition and population density along with AIDS incidence rates and diabetes mellitus type 2. Smoking data were incomplete and not available for analysis.ResultsA significant, negative correlation between CF carriership rate and TB incidence, independent of any of the seven confounders was found.ConclusionWe provide exploratory support for the hypothesis that carrying a single CFTR mutation arms against Mtb infections.

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“…Dentre as mais de 2.000 mutações já descritas, as quatro mais estudadas no Brasil são a F508del, G542X, G551D e N1303K, sendo estas de origem caucasóide 5,20 . Considerando a heterogeneidade da população brasileira, o fluxo migratório entre as regiões e a composição étnica distinta nas populações das diferentes regiões geográficas brasileiras: Norte, Nordeste, Sul, Sudeste e Centro-Oeste, espera-se que a frequência das mutações da FC, bem como a incidência da doença, varie entre as diferentes regiões do Brasil…”

Section: Introductionunclassified

“…No Estado da Bahia, onde a população é bastante miscigenada esta mutação foi encontrada em 4 pacientes (9%) 41 . Estes resultados demonstram a importância da inserção de mutações de origens étnicas diferentes da caucasóide nos estudos brasileiros, pois a composição étnica deste país sofreu influência não apenas européia, mais também pela miscigenação entre africanos e ameríndios 20 . Estudos como estes poderão contribuir para o planejamento de programas de saúde pública direcionados, tendo em vista que cada região do Brasil apresenta um perfil genético diferenciado, devido ao alto nível de miscigenação do país.…”

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Estudos genéticos sobre a Fibrose Cística no Brasil: uma revisão sistemática

Mota¹,

Souza²,

Rocha³

et al. 2016

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CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country

Cited by 14 publications

References 44 publications

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis

Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory

Estudos genéticos sobre a Fibrose Cística no Brasil: uma revisão sistemática

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