Resumo -O propósito deste foi sintetizar os principais resultados de estudos que analisaram a relação do polimorfismo de nucleotídeo simples (SNP) rs9939609 do gene FTO (fat mass and obesity associated), com a manifestação de sobrepeso / obesidade e suas co-morbidades e discutir a interação deste polimorfismo com os demais fatores promotores da obesidade. A busca foi realizada nas bases de dados MEDLINE, Highwire, Science Direct e SciELO, usando as palavras-chave: FTO rs9939609, obesity genetic, gene associated obesity, FTO contributes obesity. Os critérios de inclusão foram: artigos originais que envolveram seres humanos e que incluíram o rs9939609. Foram excluídos os artigos que analisaram o gene FTO em grupos com doenças hormonais pré-instaladas. Dos vários SNPs contidos no gene FTO, o rs9939609 tem sido o mais pesquisado. Este SNP é composto pelos alelos A e T, sendo os homozigotos A os mais susceptíveis ao desenvolvimento de sobrepeso / obesidade em todas as idades, principalmente, em populações caucasianas. Nessa situação, o controle dos fatores ambientais (alimentação e atividade física) pode prevenir o acúmulo excessivo de gordura. A obesidade está relacionada ao desenvolvimento de doenças crônicas não-transmissíveis. Foram observadas associações do rs9939609 com o perfil lipídico sanguíneo e a glicemia. A prática de exercícios físicos e a alimentação parecem ser os principais influenciadores no desenvolvimento do sobrepeso / obesidade e na instalação das co-morbidades associadas. Palavras-chave: Obesidade; Sobrepeso; Estilo de vida; Co-morbidade; Genética. Abstract -The purpose of this work was to review the main results of studies that have analysed the relationship between the rs9939609 single nucleotide polymorphism (SNP) of the FTO gene and the manifestation of overweight/obesity with its associated co-morbidity, and to discuss the interaction of this polymorphism with the other factors which

Myelofibrosis (MF) is a clonal hematopoietic stem cell disorder belonging to the non-chronic-myeloid-leukemia myeloproliferative neoplasms. Cardinal features of myelofibrosis include extramedullary hematopoiesis, hepatosplenomegaly and cytopenias. The disease can occur de novo as primary MF or result from the progression of polycythemia vera or essential thrombocythemia with no differences in clinical or histological characteristics. Though several large chromosome abnormalities have been described in patients with myelofibrosis there are no previous studies screening for both CNVs and LOH (loss of heterozygosity) in patients with MF. We studied 11 patients using CytoScan platform (750k or HD- Affymetrix). This platform allows the identification of copy number variations as well as segments of loss of heterozygosity. Forty-five percent (5/11) presented pathogenic/possibly pathogenic CNVs and 72% (8/11) presented large segments of loss of heterozygosity (>10Mb). Two patients had a single CNV without any LOH. Two patients had a single LOH. All others have multiple LOH with (3) or without (4) CNVs. The most frequent abnormality was LOH of 9p (3/11) and deletion 13q (2/11). All other alterations were non-recurrent. One patient had a small deletion including exons 1 and 2 of NOTCH2, a gene known to be involved in hematological malignancies. The most frequent abnormality reported in the literature is 20q deletion. In our cohort only one patient had the 20q deletion and also had multiple complex chromosome rearrangements on chromosomes 7 and 12 and a large LOH on chromosome 3p. The study shows that CNV and LOH are frequent and may be involved in pathogenesis of the disease. However, the role of these changes in the pathogenesis are not yet clear. Disclosures No relevant conflicts of interest to declare.