Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies
| Autor: | Ana Carolina Proença da Fonseca, Angad S. Johar, Mauricio Arcos-Burgos, Gilberto Paz-Filho, Claudio A. Mastronardi |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Leptin Candidate gene Pediatric Obesity Heredity Genetic association studies Genetic testing Genetic Linkage Endocrinology Diabetes and Metabolism Appetite Dna sequence Review Gene sequence Medical decision making Signal transduction Bioinformatics Procedures Gene 0302 clinical medicine Endocrinology Models Medicine High throughput sequencing Childhood obesity Child Exome Exome sequencing Priority journal Genetics education.field_of_study Genetics of obesity Genetic analysis High-Throughput Nucleotide Sequencing Pediatric obesity Genetic background Genetic linkage Brain development Chemistry Melanocortin Linkage analysis Human Genome-wide association study Population Hypothalamus Monogenic disorder Genetic predisposition to disease 030209 endocrinology & metabolism Chromosome analysis 03 medical and health sciences Next generation sequencing Genetic screening Internal Medicine Humans Genetic Predisposition to Disease Obesity Genetic Testing Gene mutation Polymorphism education Disease severity Endocrine disease Genetic Association Studies Genetic association Genetic association study Genetic polymorphism Polymorphism Genetic Models Genetic business.industry Genetic predisposition Whole exome sequencing Microarray analysis Dna Genome analysis DNA medicine.disease Nonhuman Dna sequencing 030104 developmental biology Metabolism Loss of function mutation Mutation Meta analysis (topic) Rare variant association test Biological model Genetic variability Trends genetic business High-throughput nucleotide sequencing Genome-Wide Association Study |
| Zdroj: | Repositorio EdocUR-U. Rosario Universidad del Rosario instacron:Universidad del Rosario |
| ISSN: | 1873-460X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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