Servico de Genetica

Porto Moniz, Portugal

Servico de Genetica

Porto Moniz, Portugal
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de Souza L.T.,Hospital Of Clinicas Of Porto Alegre | de Souza L.T.,Federal University of Rio Grande do Sul | Kowalski T.W.,Federal University of Rio Grande do Sul | Ferrari J.,Hospital Of Clinicas Of Porto Alegre | And 9 more authors.
Oral Diseases | Year: 2016

Objectives: We investigated the association between non-syndromic oral cleft and variants in IRF6 (rs2235371 and rs642961) and 8q24 region (rs987525) according to the ancestry contribution of the Brazilian population. Subjects and methods: Subjects with oral cleft (CL, CLP, or CP) and their parents were selected from different geographic regions of Brazil. Polymorphisms were genotyped using a TaqMan assay and genomic ancestry was estimated using a panel of 48 INDEL polymorphisms. Results: A total of 259 probands were analyzed. A TDT detected overtransmission of the rs2235371 G allele (P = 0.0008) in the total sample. A significant association of this allele was also observed in CLP (P = 0.0343) and CLP + CL (P = 0.0027). IRF6 haplotype analysis showed that the G/A haplotype increased the risk for cleft in children (single dose: P = 0.0038, double dose: P = 0.0022) and in mothers (single dose: P = 0.0016). The rs987525 (8q24) also exhibited an association between the A allele and the CLP + CL group (P = 0.0462). These results were confirmed in the probands with European ancestry. Conclusions: The 8q24 region plays a role in CL/P and the IRF6 G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population. © 2016 John Wiley & Sons A/S.


PubMed | Federal University of Alagoas, Federal University of Rio Grande do Sul, University of Campinas, Hospital Infantil Albert Sabin and 3 more.
Type: Journal Article | Journal: Oral diseases | Year: 2016

We investigated the association between non-syndromic oral cleft and variants in IRF6 (rs2235371 and rs642961) and 8q24 region (rs987525) according to the ancestry contribution of the Brazilian population.Subjects with oral cleft (CL, CLP, or CP) and their parents were selected from different geographic regions of Brazil. Polymorphisms were genotyped using a TaqMan assay and genomic ancestry was estimated using a panel of 48 INDEL polymorphisms.A total of 259 probands were analyzed. A TDT detected overtransmission of the rs2235371G allele (P=0.0008) in the total sample. A significant association of this allele was also observed in CLP (P=0.0343) and CLP+CL (P=0.0027). IRF6 haplotype analysis showed that the G/A haplotype increased the risk for cleft in children (single dose: P=0.0038, double dose: P=0.0022) and in mothers (single dose: P=0.0016). The rs987525 (8q24) also exhibited an association between the A allele and the CLP+CL group (P=0.0462). These results were confirmed in the probands with European ancestry.The 8q24 region plays a role in CL/P and the IRF6G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population.


Tomaz R.A.,Instituto Portugues Of Oncologia Of Lisbon Francisco Gentil | Tomaz R.A.,New University of Lisbon | Sousa I.,University of Lisbon | Silva J.G.,Instituto Portugues Of Oncologia Of Lisbon Francisco Gentil | And 8 more authors.
Clinical Endocrinology | Year: 2012

Objective FOXE1 is a transcription factor required for thyroid differentiation and function. FOXE1 locus polymorphisms (chromosome 9q22.33) were recently associated with increased sporadic thyroid cancer risk. In this study, we aimed to investigate the association of FOXE1 variants with nonmedullary thyroid cancer (NMTC), in both sporadic and familial (FNMTC) cases from the Portuguese population. Design and Methods Nine variants located at the FOXE1 locus were sequenced in genomic DNA from 60 FNMTC probands and 80 patients with sporadic NMTC. Alleles were tested for association with thyroid cancer, against 130 healthy matched Portuguese controls. Results All variants were significantly associated with increased thyroid cancer risk when combining familial and sporadic cases (OR range = 1·62-2·58). In particular, two reported risk variants were associated with the disease: rs965513 (allele A) with familial (OR = 2·30, 95% CI = 1·48-3·59, P = 0·0002) and sporadic (OR = 2·81, 95% CI = 1·87-4·22, P < 0·0001) NMTC and rs1867277 (allele A) with the sporadic (OR = 1·76, 95% CI = 1·18-2·62, P = 0·0052) and combined NMTC cases (OR = 1·70, 95% CI = 1·21-2·40, P = 0·0022). Interestingly, we also identified association of FOXE1 polyalanine tract expansions (>14 alanines) with thyroid cancer risk, in both familial (OR = 2·56, 95% CI = 1·64-4·01, P < 0·0001) and sporadic (OR = 2·44, 95% CI = 1·61-3·68, P < 0·0001) cases. Conclusions We found compelling evidence of association between FOXE1 variants and thyroid cancer risk in the Portuguese population. To our knowledge, this is the first study supporting the association of this locus with both sporadic and familial NMTC susceptibility. © 2012 Blackwell Publishing Ltd.


Moreira M.A.M.,Instituto Nacional Of Cancer | Bobrovnitchaia I.G.,Instituto Nacional Of Cancer | Lima M.A.F.D.,Instituto Nacional Of Cancer | Lima M.A.F.D.,Rio de Janeiro State Federal University | And 10 more authors.
Familial Cancer | Year: 2012

We have screened BRCA2 c.156-157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156-157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region. © Springer Science+Business Media B.V. 2012.

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