| Author | Fonseca, Ana Carolina Proença da | |
| Author | Mastronardi, Claudio | |
| Author | Johar, Angad | |
| Author | Arcos-Burgos, Mauricio | |
| Author | Paz Filho, Gilberto | |
| Access date | 2018-02-15T11:59:35Z | |
| Available date | 2018-02-15T11:59:35Z | |
| Document date | 2017 | |
| Citation | FONSECA, Ana Carolina Proença de; et al. Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies. Journal of Diabetes and Its Complications, v.31, p.1549–1561, June 2017. | pt_BR |
| ISSN | 1056-8727 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/24814 | |
| Language | eng | pt_BR |
| Publisher | Elsevier | pt_BR |
| Rights | restricted access | pt_BR |
| Subject in Portuguese | Genes | pt_BR |
| Subject in Portuguese | Análise de Sequência de DNA | pt_BR |
| Subject in Portuguese | Leptina | pt_BR |
| Subject in Portuguese | Genética | pt_BR |
| Subject in Portuguese | Melanocortina | pt_BR |
| Subject in Portuguese | Obesidade | pt_BR |
| Title | Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies | pt_BR |
| Type | Article | pt_BR |
| Abstract | Background: Childhood obesity is a serious public health problem associated with the development of several
chronic diseases, such as type 2 diabetes mellitus, dyslipidemia, and hypertension. The elevated prevalence of
obesity is mostly due to inadequate diet and lifestyle, but it is also influenced by genetic factors.
Objectives: To review recent advances in the field of the genetics of obesity. We summarize the list of genes
associated with the rare non-syndromic forms of obesity, and explain their function. Furthermore, we discuss
the technologies that are available for the genetic diagnosis of obesity.
Results: Several studies reported that single gene variants cause Mendelian forms of obesity, determined by
mutations of major effect in single genes. Rare, non-syndromic forms of obesity are a result of loss-of-function
mutations in genes that act on the development and function of the hypothalamus or the leptin-melanocortin
pathway. These variants disrupt enzymes and receptors that play a role in energy homeostasis, resulting in
severe early-onset obesity and endocrine dysfunctions. Different approaches and technologies have been
used to understand the genetic background of obesity. Currently, whole genome and whole exome
sequencing are important diagnostic tools to identify new genes and variants associated with severe obesity,
but other approaches are also useful at individual or population levels, such as linkage analysis, candidate
gene sequencing, chromosomal microarray analysis, and genome-wide association studies.
Conclusions: The understanding of the genetic causes of obesity and the usefulness and limitations of the
genetic diagnostic approaches can contribute to the development of new personalized therapeutic targets
against obesity. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ. Brasil. | pt_BR |
| Affilliation | Universidad del Rosario. Institute of Translational Medicine. Bogota, Colombia. | pt_BR |
| Affilliation | The Australian National University. John Curtin School of Medical Research. Department of Genome Sciences. Australia. | pt_BR |
| Affilliation | Universidad del Rosario. Institute of Translational Medicine. Bogota, Colombia. | pt_BR |
| Affilliation | The Australian National University. John Curtin School of Medical Research. Department of Genome Sciences. Australia. | pt_BR |
| Subject | DNA sequencing | pt_BR |
| Subject | Gene | pt_BR |
| Subject | Genetics | pt_BR |
| Subject | Leptin | pt_BR |
| Subject | Melanocortin | pt_BR |
| Subject | Obesity | pt_BR |
| e-ISSN | 10.1016/j.jdiacomp.2017.04.026 | |
| Embargo date | 2030-01-01 | |
