Heterozygous rare genetic variants in non-syndromic early-onset obesity
| Autor: | Francesc Bou de Pieri, Jesús Argente, Julie A. Chowen, Gabriel Á. Martos-Moreno, Raquel Flores, Luis A. Pérez-Jurado, Clara Serra-Juhé |
|---|---|
| Přispěvatelé: | UAM. Departamento de Pediatría |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Proband Heterozygote Pediatric Obesity Candidate gene Genetic testing Adolescent Medicina Endocrinology Diabetes and Metabolism Medicine (miscellaneous) Heterozygous RSVs 030209 endocrinology & metabolism Article Cohort Studies Heritability Young Adult 03 medical and health sciences Therapeutic intervention Endocrinology 0302 clinical medicine medicine Humans 030212 general & internal medicine Obesity Child Gene Exome Genetics Nutrition and Dietetics medicine.diagnostic_test business.industry Pathogenic RSVs Genetic Variation Endocrine system and metabolic diseases medicine.disease Child Preschool Mutation Female business Body mass index |
| Zdroj: | Biblos-e Archivo. Repositorio Institucional de la UAM instname International Journal of Obesity (2005) |
| Popis: | Background: Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe obesity. Novel therapeutic interventions are in development for some genetic forms, emphasizing the importance of determining genetic contributions. Objective: We aimed to define the contribution of rare single-nucleotide genetic variants (RSVs) in candidate genes to non-syndromic severe early-onset obesity (EOO; body mass index (BMI) >+3 standard deviation score JA was funded by the Spanish Ministry of Health (FIS-PI13/02195 and PI16/00485, co-funded by FEDER), the Fundación de Endocrinología y Nutrición and the “Centro de Investigación Biomédica en Red” for obesity and nutrition (CIBEROBN) of the Instituto de Salud Carlos III, Spain. LAP-J was funded by the Spanish Ministry of Health (FIS-PI1302481, co-funded by FEDER), the Generalitat de Catalunya (2014SRG1468), the Institució Catalana de Recerca i Estudis Avançats (ICREA Academia programme), the Spanish Ministry of Economy and Competiveness “Programa de Excelencia María de Maeztu” (MDM-2014-0370) and the Centro de Investigación Biomédica en Red for rare diseases (CIBERER) of the Instituto de Salud Carlos III, Spain. JAC was funded by grants from the Spanish Ministry of Science and Innovation (BFU2017-82565- C21-R2). |
| Databáze: | OpenAIRE |
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