0000000000667238

AUTHOR

Claudia Pinato

showing 3 related works from this author

Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies.

2016

Objectives Growing interest focuses on the association between 5-HTTLPR polymorphism and eating disorders (ED), but published findings have been conflicting. Methods The Italian BIO.VE.D.A. biobank provided 976 samples (735 ED patients and 241 controls) for genotyping. We conducted a literature search of studies published up to 1 April 2015, including studies reporting on 5HTTLPR genotype and allele frequencies in obesity and/or ED. We ran a meta-analysis, including data from BIO.VE.D.A. – comparing low and high-functioning genotype and allele frequencies in ED vs. controls. Results Data from 21 studies, plus BIO.VE.D.A., were extracted providing information from 3,736 patients and 2,707 co…

medicine.medical_specialtyAnorexia Nervosa5-HTTLPR; anorexia nervosa; binge eating; bulimia nervosa; Eating disorders; Biological Psychiatry; Psychiatry and Mental Health5-HTTLPR03 medical and health sciences0302 clinical medicinebinge eatingGene FrequencymedicineHumansGenetic Predisposition to DiseaseObesityPsychiatryBulimia NervosaBiological PsychiatrySerotonin transporterBiological Specimen BanksSerotonin Plasma Membrane Transport ProteinsPolymorphism GeneticbiologyBinge eatingBulimia nervosaEating disordermedicine.diseaseBiobank030227 psychiatryPsychiatry and Mental healthEating disordersMeta-analysis5-HTTLPREating disordersbiology.proteinGene polymorphismmedicine.symptomPsychology030217 neurology & neurosurgeryThe world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry
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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

2021

Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining C…

3D tumoroids; Array CGH; Clonal evolution; Neuroblastoma; Pharmacogenetics; Recurrent tumor; Single nucleotide variants; Whole exome sequencing; Child Preschool; Disease Progression; Drug Resistance Neoplasm; Fatal Outcome; Humans; Immunophenotyping; Neuroblastoma; Polymorphism Single Nucleotide; Comparative Genomic Hybridization; Whole Exome SequencingQH301-705.5Drug Resistanceclonal evolutionCase Report3D tumoroidsSingle-nucleotide polymorphismDiseaseComputational biologyBiologyMalignancyPolymorphism Single NucleotideSomatic evolution in cancerImmunophenotypingwhole exome sequencingNeuroblastomaFatal OutcomeNeuroblastomaExome SequencingmedicineHumansarray CGHrecurrent tumorPolymorphismBiology (General)ChildPreschoolExome sequencingTumorsComparative Genomic HybridizationSingle NucleotideGeneral Medicinemedicine.diseaseSingle nucleotide variantsDrug Resistance NeoplasmPharmacogeneticsChild PreschoolDisease ProgressionFarmacogenèticaNeoplasmPharmacogeneticsComparative genomic hybridization
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Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published St…

2017

Objectives: We investigated whether catechol-O-methyltransferase (COMT) Val158Met polymorphism is associated with eating disorders (EDs). Methods: We conducted a systematic literature search of studies published until 15 January 2017 and added data from the Italian ‘Biobanca Veneta per i Disturbi Alimentari’ biobank, performing a meta-analysis comparing COMT Val158Met genotype and allele frequencies in EDs and anorexia nervosa (AN) or bulimia nervosa (BN) patients versus controls. Results: Ten studies plus Biobanca Veneta per i Disturbi Alimentari (ED: n = 920, controls: n = 261 controls) with 3541 ED patients (AN = 2388; BN = 233) and 3684 controls were included. There were no significant …

Anorexia NervosaGenotypeVal158MetCatechol O-MethyltransferasePolymorphism Single Nucleotidecatechol-O-methyltransferase (COMT)polymorphismFeeding and Eating DisordersGene FrequencyCase-Control Studiesmental disordersJournal ArticleHumansBulimia NervosaVal158Met; anorexia nervosa; bulimia nervosa; catechol-O-methyltransferase (COMT); polymorphismBiological Specimen BanksEuropean eating disorders review : the journal of the Eating Disorders Association
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