6 results on '"Luiza Emy Dorfman"'
Search Results
2. The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population
- Author
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Cristine Dieter, Natália Emerim Lemos, Luiza Emy Dorfman, Guilherme Coutinho Kullmann Duarte, Taís Silveira Assmann, and Daisy Crispim
- Subjects
Adult ,Male ,Genotype ,endocrine system diseases ,Endocrinology, Diabetes and Metabolism ,Population ,Type 1 diabetes mellitus ,030209 endocrinology & metabolism ,Single-nucleotide polymorphism ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,Diseases of the endocrine glands. Clinical endocrinology ,BACH2 gene ,03 medical and health sciences ,0302 clinical medicine ,Gene Frequency ,Risk Factors ,medicine ,Humans ,SNP ,Genetic Predisposition to Disease ,education ,Allele frequency ,Genetics ,Type 1 diabetes ,education.field_of_study ,business.industry ,Case-control study ,DNA polymorphisms ,Middle Aged ,RC648-665 ,medicine.disease ,Minor allele frequency ,Basic-Leucine Zipper Transcription Factors ,Diabetes Mellitus, Type 1 ,Case-Control Studies ,030220 oncology & carcinogenesis ,Medicine ,Female ,business ,Brazil - Abstract
Objective Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused by a complex interaction between environmental and genetic risk factors. BTB domain and CNC homolog 2 (BACH2) gene encodes a transcription factor that acts on the differentiation and formation of B and T lymphocytes. BACH2 is also involved in the suppression of apoptosis and inflammation in pancreatic beta-cells, indicating a role for it in the development of T1DM. Therefore, the aim of this study was to evaluate the association of the BACH2 rs11755527 single nucleotide polymorphism (SNP) with T1DM. Subjects and methods This case-control study comprised 475 patients with T1DM and 598 nondiabetic individuals. The BACH2 rs11755527 (C/G) SNP was genotyped using real-time PCR with TaqMan MGB probes. Results Genotype distributions of rs11755527 SNP were in accordance with frequencies predicted by the Hardy–Weinberg equilibrium in case and control groups and were similar between groups (P = 0.729). The minor allele frequency was 43.6% in cases and 42.5% in controls (P = 0.604). Moreover, the G allele frequency did not differ between groups when considering different inheritance models and adjusting for age, gender, body mass index, and HLA DR/DQ genotypes of high-risk for T1DM. Although, well-known high-risk T1DM HLA DR/DQ genotypes were associated with T1DM in our population [OR= 7.42 (95% CI 3.34 – 17.0)], this association was not influenced by the rs11755527 SNP. Conclusion The BACH2 rs11755527 SNP seems not to be associated with T1DM in a Brazilian population.
- Published
- 2020
3. Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half‐siblings
- Author
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Rafael Fabiano Machado Rosa, Luiza Emy Dorfman, Paulo Ricardo Gazzola Zen, Juliana F. Mazzeu, José Antônio Monteiro Flores, Rosana Cardoso Manique Rosa, Felipe Albuquerque Marques, Robert Pogue, and Cristiane Kopacek
- Subjects
0301 basic medicine ,Karyotype ,Dwarfism ,Ribs ,Consanguinity ,030105 genetics & heredity ,Biology ,Short stature ,03 medical and health sciences ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,Child ,Genetics (clinical) ,Exome sequencing ,Bone Diseases, Developmental ,Rib cage ,Pierre Robin Syndrome ,Siblings ,Index finger ,Anatomy ,musculoskeletal system ,Pedigree ,Phenotype ,medicine.anatomical_structure ,Etiology ,Female ,medicine.symptom ,Abnormality ,Hand Deformities, Congenital - Abstract
Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive pattern of inheritance, although due to the high degree of consanguinity a compound etiology of the phenotype by variants in various genes may be present as well.
- Published
- 2017
4. Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances
- Author
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Júlio César Loguercio Leite, Mariluce Riegel, Roberto Giugliani, and Luiza Emy Dorfman
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Male ,Defeitos congênitos ,Congenital anomalies ,Array-CGH ,Microarray ,Array‐CGH ,Citogenética molecular ,Biology ,Genomic databases ,Congenital Abnormalities ,Molecular cytogenetics ,chemistry.chemical_compound ,Neonatal Screening ,Anomalias congênitas ,Triagem seletiva de recém-nascidos ,Humans ,Triagem seletiva de recém‐nascidos ,Clinical significance ,Pediatrics, Perinatology, and Child Health ,Copy-number variation ,Oligonucleotide Array Sequence Analysis ,Retrospective Studies ,Chromosome Aberrations ,CGH-array ,Genetics ,Comparative Genomic Hybridization ,Chromosomal abnormalities ,lcsh:RJ1-570 ,Infant, Newborn ,lcsh:Pediatrics ,Anomalias cromossômicas ,Monitoring program ,Birth defects ,chemistry ,Karyotyping ,Pediatrics, Perinatology and Child Health ,Newborn selective screening ,Female ,CGH‐array ,DNA ,Comparative genomic hybridization - Abstract
Objective: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. Methods: A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. Results: Out of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. Conclusions: Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs. Resumo: Objetivo: Identificar desequilíbrios cromossômicos por meio da hibridização genômica comparativa baseada em microarranjos (CGH-array) em amostras de DNA de neonatos com anomalias congênitas de causa desconhecida de um programa de monitoramento de defeitos congênitos em uma maternidade pública. Métodos: Uma análise genômica cega foi realizada retrospectivamente em 35 amostras armazenadas de DNA de neonatos nascidos entre julho de 2011 e dezembro de 2012. Todas as possíveis variações no número de cópias (CNVs) de DNA foram comparadas com as relatadas em bases de dados genômicos públicas, e sua relevância clínica foi avaliada. Resultados: De um total de 35 amostras testadas, foram detectados 13 desequilíbrios genômicos em 12/35 casos (34,3%). Em 4/35 casos (11,4%), os desequilíbrios cromossômicos poderiam ser definidos como patogênicos; em 5/35 (14,3%) deles foram identificadas CNVs de DNA de relevância clínica incerta; e, em 4/35 (11,4%), foram detectadas variações normais. Dentre os quatro casos com resultados considerados relacionados causalmente aos achados clínicos, 2/4 (50%) apresentaram alterações causais já relacionadas a síndromes de microdeleção bem definidas. Em 2/4 amostras (50%), os desequilíbrios cromossômicos encontrados, embora preditivos como patogênicos, não estavam relacionados anteriormente a entidades clínicas reconhecidas. Conclusões: A análise de CGH-array permitiu maior taxa de detecção de anomalias cromossômicas, e essa determinação é valiosa principalmente em neonatos com anomalias congênitas de etiologia desconhecida ou em casos em que os resultados do cariótipo não podem ser obtidos. Além disso, embora a interpretação dos resultados deva ser refinada, esse método é uma ferramenta robusta e precisa que pode ser usada na investigação de primeira linha de anomalias congênitas e deve ser considerada em análises futuras/retrospectivas de amostras de DNA por programas de monitoramento de defeitos congênitos. Keywords: Birth defects, Congenital anomalies, Newborn selective screening, Chromosomal abnormalities, Molecular cytogenetics, Array-CGH, Palavras-chave: Defeitos congênitos, Anomalias congênitas, Triagem seletiva de recém-nascidos, Anomalias cromossômicas, Citogenética molecular, CGH-array
- Published
- 2015
5. The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population
- Author
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Natália Emerim Lemos, Andrea Carla Bauer, Taís Silveira Assmann, Guilherme Coutinho Kullmann Duarte, Cristine Dieter, Daisy Crispim, Luiza Emy Dorfman, and Luis Henrique Santos Canani
- Subjects
0301 basic medicine ,Adult ,Male ,Risk ,Genotype ,Receptor, ErbB-3 ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Receptor tyrosine kinase ,03 medical and health sciences ,Gene Frequency ,Genetics ,HLA-DR ,SNP ,Humans ,Genetic Predisposition to Disease ,Allele ,Gene ,Alleles ,Genetic association ,biology ,General Medicine ,Introns ,030104 developmental biology ,Diabetes Mellitus, Type 1 ,Case-Control Studies ,biology.protein ,Female ,Brazil ,Genome-Wide Association Study - Abstract
The Erb-b2 receptor tyrosine kinase 3 (ERBB3) belongs to a family of epidermal growth factor receptors of protein tyrosine kinases, and regulates cell survival, differentiation and proliferation in several cell types. Previous studies have suggested that ERBB3 contributes to T1DM pathogenesis by modulating antigen presenting cell function, autoimmunity and cytokine-induced beta-cell apoptosis. Accordingly, some genome-wide association studies identified ERBB3 gene as a susceptibility locus for T1DM, with the strongest association signal being observed for the rs2292239 single nucleotide polymorphism (SNP) in intron 7 of the gene. Therefore, the aim of the present study was to replicate the association of the ERBB3 rs2292239 SNP with T1DM in a Brazilian population. We analyzed 421 T1DM patients (cases) and 510 nondiabetic subjects (controls). All subjects were self-declared as white. The ERBB3 rs2292239 (A/C) SNP was genotyped by real-time PCR using TaqMan MGB probes. Genotype (P=0.001) and allele (P=0.002) frequencies of the ERBB3 rs2292239 SNP were differently distributed between T1DM patients and nondiabetic controls. Moreover, the A allele was significantly associated with risk for T1DM when considering recessive (OR=1.58, 95% CI 1.11-2.27; P=0.015), additive (OR=1.78, 95% CI 1.21-2.62; P=0.004), and dominant (OR=1.39, 95% CI 1.07-1.81; P=0.016) models of inheritance. However, after adjustment for presence of high-risk HLA DR/DQ genotypes, the rs2292239 SNP remained independently associated with T1DM only for the additive model (OR=1.62, 95% CI 1.02-2.59; P=0.043). Our results suggest that the A/A genotype of the ERBB3 rs2292239 SNP is associated with risk for T1DM in a white Brazilian population.
- Published
- 2017
6. The rs2292239 polymorphism in the ERBB3 gene is associated with risk for type 1 diabetes mellitus
- Author
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Guilherme Coutinho Kullmann Duarte, Natália Emerim Lemos, Luiza Emy Dorfman, Cristine Dieter, Daisy Crispim, Andrea Carla Bauer, and Taís Silveira Assmann
- Subjects
Genetics ,Type 1 diabetes ,Polymorphism (materials science) ,business.industry ,medicine ,medicine.disease ,business ,ERBB3 Gene - Published
- 2017
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