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Orientador(es)
Resumo(s)
Obesity arises from a complex interaction between genetic variance, environment, and lifestyle changes, and has become a major public health problem as a result of its increasing prevalence in most developed countries. Several genes have been implicated in obesity, namely ADRB1, ADRB2, ADRB3, BDNF, FTO; IGF2, IGF2R, LEP, LEPR, LRP2, MC1R; MC2R; MC3R; MC4R; NEGR1, NPY, NPY2R; NPY1R; NTRK2, PCSK1, POMC; SH2B1; SIM1; SLC6A14; SORCS1; UCP1; UCP2; UCP3. All these genes have mutations associated with monogenic obesity. The aim of the study - We aimed to investigate the presence of mutations in the mentioned genes in a Portuguese population with obesity using an enrichment method and all exome sequencing.
Descrição
IDI&CA IPL/2017/GenetObese_ESTeSL
Palavras-chave
Obesity Genetic mutation Monogenic obesity Portugal IPL/2017/GenetObese_ESTeSL IDI&CA 2017
Contexto Educativo
Citação
Brito M, Serrasqueiro B, Veiga L, Silva-Nunes J. Monogenic obesity in Portugal: the use of next generation sequencing (preliminary results). In: 5th Genomic Medicine 2018 Nordic Conference, Odense University Hospital (Denmark), October 2-3, 2018.