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Article

Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals

1
H&TRC Health and Technology Research Center, Escola Superior de Tecnologia da Saúde de Lisboa, Instituto Politécnico de Lisboa, 1990-096 Lisbon, Portugal
2
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de Lisboa Central, 1150-199 Lisbon, Portugal
3
NOVA Medical School/Faculdade de Ciências Médicas, New University of Lisbon, 1169-056 Lisbon, Portugal
*
Author to whom correspondence should be addressed.
Academic Editor: Sujoy Ghosh
Genes 2021, 12(4), 603; https://doi.org/10.3390/genes12040603
Received: 24 March 2021 / Revised: 14 April 2021 / Accepted: 15 April 2021 / Published: 19 April 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
Obesity is a major public health problem, which has a strong genetic component that interplays with environmental factors. Several genes are known to be implicated in the regulation of body weight. The identification of alleles that can be associated with obesity is a key element to control this pandemic. On the basis of a Portuguese population, 65 obesity-related genes are sequenced using Next-Generation Sequencing (NGS) in 72 individuals with obesity, in order to identify variants associated with monogenic obesity and potential risk factors. A total of 429 variants are identified, 129 of which had already been associated with the phenotype. Comparing our results with the European and Global frequencies, from 1000 Genomes project, 23 potential risk variants are identified. Six new variants are discovered in heterozygous carriers: four missense (genes ALMS1-NM_015120.4:c.5552C>T; SORCS1-NM_001013031.2:c.1072A>G and NM_001013031.2: c.2491A>C; TMEM67-NM_153704.5:c.158A>G) and two synonymous (genes BBS1-NM_024649.4:c.1437C>T; TMEM67-NM_153704.5:c.2583T>C). Functional studies should be performed to validate these new findings and evaluate their penetrance and pathogenicity. Regardless of no cases of monogenic obesity being identified, this kind of investigational study is important when we are still trying to understand the aetiology and pathophysiology of obesity. This will allow the identification of rare variants associated with obesity and the study of their prevalence in specific populational groups. View Full-Text
Keywords: obesity; monogenic obesity; next-generation sequencing (NGS); obese women obesity; monogenic obesity; next-generation sequencing (NGS); obese women
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MDPI and ACS Style

Ginete, C.; Serrasqueiro, B.; Silva-Nunes, J.; Veiga, L.; Brito, M. Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals. Genes 2021, 12, 603. https://doi.org/10.3390/genes12040603

AMA Style

Ginete C, Serrasqueiro B, Silva-Nunes J, Veiga L, Brito M. Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals. Genes. 2021; 12(4):603. https://doi.org/10.3390/genes12040603

Chicago/Turabian Style

Ginete, Catarina, Bernardo Serrasqueiro, José Silva-Nunes, Luísa Veiga, and Miguel Brito. 2021. "Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals" Genes 12, no. 4: 603. https://doi.org/10.3390/genes12040603

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