ERICKA BARBOSA TRARBACH
Projetos de Pesquisa
Unidades Organizacionais
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
7 resultados
Resultados de Busca
Agora exibindo 1 - 7 de 7
- Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism(2014) BRAZ, Adriana F.; COSTALONGA, Everlayny F.; TRARBACH, Ericka B.; SCALCO, Renata C.; MALAQUIAS, Alexsandra C.; GUERRA-JUNIOR, Gil; ANTONINI, Sonir R. R.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.Background: There is great interindividual variability in the response to GH therapy. Ascertaining genetic factors can improve the accuracy of growth response predictions. Suppressor of cytokine signaling (SOCS)-2 is an intracellular negative regulator of GH receptor (GHR) signaling. Objective: The objective of the study was to assess the influence of a SOCS2 polymorphism (rs3782415) and its interactive effect with GHR exon 3 and -202 A/C IGFBP3 (rs2854744) polymorphisms on adult height of patients treated with recombinant human GH (rhGH). Design and Patients: Genotypes were correlated with adult height data of 65 Turner syndrome (TS) and 47 GH deficiency (GHD) patients treated with rhGH, by multiple linear regressions. Generalized multifactor dimensionality reduction was used to evaluate gene-gene interactions. Results: Baseline clinical data were indistinguishable among patients with different genotypes. Adult height SD scores of patients with at least one SOCS2 single-nucleotide polymorphism rs3782415-C were 0.7 higher than those homozygous for the T allele (P < .001). SOCS2 (P < .003), GHR-exon 3 (P = .016) and -202 A/C IGFBP3 (P = .013) polymorphisms, together with clinical factors accounted for 58% of the variability in adult height and 82% of the total height SD score gain. Patients harboring any two negative genotypes in these three different loci (homozygosity for SOCS2 T allele; the GHR exon 3 full-length allele and/or the -202C-IGFBP3 allele) were more likely to achieve an adult height at the lower quartile (odds ratio of 13.3; 95% confidence interval of 3.2-54.2, P = .0001). Conclusion: The SOCS2 polymorphism (rs3782415) has an influence on the adult height of children with TS and GHD after long-term rhGH therapy. Polymorphisms located in GHR, IGFBP3, and SOCS2 loci have an influence on the growth outcomes of TS and GHD patients treated with rhGH. The use of these genetic markers could identify among rhGH-treated patients those who are genetically predisposed to have less favorable outcomes.
conferenceObject Molecular Investigation of PTEN and DREAM Genes in Patients with Multinodular Goiter(2014) SHINZATO, Amanda; LERARIO, Antonio M.; DANILOVIC, Debora Lucia Seguro; LIN, Chin Jia; MARUI, Suemi; TRARBACH, Ericka BarbosaconferenceObject Targeted High-Throughput Sequencing of RAS/MAPK Pathway Genes for Diagnosis of Noonan Syndrome (NS) and Noonan-Related Disorders (NRD)(2014) MALAQUIAS, Alexsandra C.; MORAES, Michelle B.; LERARIO, Antonio M.; TRARBACH, Ericka Barbosa; MITNE-NETO, Miguel; PEREIRA, Alexandre; BERTOLA, Debora R.; TELES, Milena Gurgel; JORGE, Alexander Augusto LimaconferenceObject Screening of AIP (aryl hydrocarbon receptor-interacting protein) Gene Mutations in Patients with Sporadic Pituitary Gigantism(2014) FOLTRAN, Renata Kikuchi; TRARBACH, Ericka Barbosa; DUARTE, Felipe H. G.; JALLAD, Raquel S.; BRONSTEIN, Marcello D.conferenceObject Molecular Investigation of PTEN and DREAM Genes in Patients with Multinodular Goiter(2014) SHINZATO, Amanda; LERARIO, Antonio M.; DANILOVIC, Debora Lucia Seguro; LIN, Chin Jia; MARUI, Suemi; TRARBACH, Ericka Barbosa- Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay(2014) BENEDUZZI, Daiane; TRARBACH, Ericka B.; MIN, Le; JORGE, Alexander A. L.; GARMES, Heraldo M.; RENK, Alessandra Covallero; FICHNA, Marta; FICHNA, Piotr; ARANTES, Karina A.; COSTA, Elaine M. F.; ZHANG, Anna; ADEOLA, Oluwaseun; WEN, Junping; CARROLL, Rona S.; MENDONCA, Berenice B.; KAISER, Ursula B.; LATRONICO, Ana Claudia; SILVEIRA, Leticia F. G.Objective: To analyze the GNRHR in patients with normosmic isolated hypogonadotropic hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP). Design: Molecular analysis and in vitro experiments correlated with phenotype. Setting: Academic medical center. Patient(s): A total of 110 individuals with normosmic IHH (74 male patients) and 50 with CDGP. Intervention(s): GNRHR coding region was amplified and sequenced. Main Outcome Measure(s): Novel variants were submitted to in vitro analysis. Frequency of mutations and genotype-phenotype correlation were analyzed. Microsatellite markers flanking GNRHR were examined in patients carrying the same mutation to investigate a possible founder effect. Result(s): Eleven IHH patients (10%) carried biallelic GNRHR mutations. In vitro analysis of novel variants (p.Y283H and p.V134G) demonstrated complete inactivation. The founder effect study revealed that Brazilian patients carrying the p.R139H mutation shared the same haplotype. Phenotypic spectrum in patients with GNRHR mutations varied from complete GnRH deficiency to partial and reversible IHH, with a relatively good genotype-phenotype correlation. One boy with CDGP was heterozygous for the p.Q106R variant, which was not considered to be pathogenic. Conclusion(s): GNRHR mutations are a frequent cause of congenital normosmic IHH and should be the first candidate gene for genetic screening in this condition, especially in autosomal recessive familial cases. The founder effect study suggested that the p.R139H mutation arises from a common ancestor in the Brazilian population. Finally, mutations in GNRHR do not appear to be involved in the pathogenesis of CDGP. (C) 2014 by American Society for Reproductive Medicine.
conferenceObject Evaluation of SSTR2, SSTR3 and SSTR5 and DRD2-Long and Short Isoforms Gene Expression in Nonfunctioning Pituitary Adenomas(2014) AMORIM, Paulo Vinicius Goncalves Holanda; TRARBACH, Ericka Barbosa; FORMIGA, Cristina B.; GUZZO, Mariana F.; CESCATO, Valter Angelo Sperling; GLEZER, Andrea; BRONSTEIN, Marcello D.