Association of polymorphisms in 5-HTT (SLC6A4) and MAOA genes with measures of obesity in young adults of Portuguese origin

Dias, Helena Correia; Muc, Magdalena; Padez, Cristina; Manco, Licínio

doi:10.3109/13813455.2015.1111390

Cited by 24 publications

(15 citation statements)

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“…Early in 2015, a specific study [ 83 ] on the serotonin transporter confiremd that our predicted gene SLC6A4 participate in processing emotional stimuli and abnormal brain function in pathogenic status. Another study [ 84 ] in 2016 implied that our predicted gene which also known as 5-HTT may be related to the obesity of Portuguese origin, validating our prediction. Moreover, APOL2 (ENSP00000249066) is a regulator for the movement of lipids in the cytoplasm and the binding of lipids to organelles [ 85 , 86 ].…”

Section: Discussionsupporting

confidence: 82%

Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective

Lei

Zhang

et al. 2017

Genes

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The number of obesity cases is rapidly increasing in developed and developing countries, thereby causing significant health problems worldwide. The pathologic factors of obesity at the molecular level are not fully characterized, although the imbalance between energy intake and consumption is widely recognized as the main reason for fat accumulation. Previous studies reported that obesity can be caused by the dysfunction of genes associated with other diseases, such as myocardial infarction, hence providing new insights into dissecting the pathogenesis of obesity by investigating its associations with other diseases. In this study, we investigated the relationship between obesity and diseases from Online Mendelian Inheritance in Man (OMIM) databases on the protein–protein interaction (PPI) network. The obesity genes and genes of one OMIM disease were mapped onto the network, and the interaction scores between the two gene sets were investigated on the basis of the PPI of individual gene pairs, thereby inferring the relationship between obesity and this disease. Results suggested that diseases related to nutrition and endocrine are the top two diseases that are closely associated with obesity. This finding is consistent with our general knowledge and indicates the reliability of our obtained results. Moreover, we inferred that diseases related to psychiatric factors and bone may also be highly related to obesity because the two diseases followed the diseases related to nutrition and endocrine according to our results. Numerous obesity–disease associations were identified in the literature to confirm the relationships between obesity and the aforementioned four diseases. These new results may help understand the underlying molecular mechanisms of obesity–disease co-occurrence and provide useful insights for disease prevention and intervention.

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Section: Discussionsupporting

confidence: 82%

Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective

Lei

Zhang

et al. 2017

Genes

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“…A previous study showed a significant association of MAOA VNTR alleles (either alone or with combination of other gene variants) with weight and BMI in Caucasian populations [98, 151–153], while our unpublished study showed association only with weight; both studies agree that subjects having the lower activity 3R allele tend to have a lower weight than the higher activity 4R allele. Meanwhile, another study showed a significant association of this VNTR with obesity in a mixed-ethnic American population [154], while Dias et al [116] and our unpublished studies showed otherwise. In a previous study, Brazilian boys who carried the 4R allele were associated with higher intake of lipid- and sugar-dense foods [155].…”

Section: Main Textmentioning

confidence: 72%

“…However, when combined with 5-HTTLPR, the L/10 allele haplotype showed a significant association with overweight/obesity in Portuguese adults [116]. Moreover, in inactive individuals, overweight/obesity was found nominally associated with the STin2 10 allele but significantly associated with the 5-HTTLPR L allele [116]. …”

Section: Main Textmentioning

confidence: 99%

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The association of insertions/deletions (INDELs) and variable number tandem repeats (VNTRs) with obesity and its related traits and complications

Say

2017

J Physiol Anthropol

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BackgroundDespite the fact that insertions/deletions (INDELs) are the second most common type of genetic variations and variable number tandem repeats (VNTRs) represent a large portion of the human genome, they have received far less attention than single nucleotide polymorphisms (SNPs) and larger forms of structural variation like copy number variations (CNVs), especially in genome-wide association studies (GWAS) of complex diseases like polygenic obesity. This is exemplified by the vast amount of review papers on the role of SNPs and CNVs in obesity, its related traits (like anthropometric measurements, biochemical variables, and eating behavior), and its related complications (like hypertension, hypertriglyceridemia, hypercholesterolemia, and insulin resistance—collectively known as metabolic syndrome). Hence, this paper reviews the types of INDELs and VNTRs that have been studied for association with obesity and its related traits and complications.Main body of the abstractThese INDELs and VNTRs could be found in the obesity loci or genes from the earliest GWAS and candidate gene association studies, like FTO, genes in the leptin–proopiomelanocortin pathway, and UCP2/3. Given the important role of the brain serotonergic and dopaminergic reward system in obesity susceptibility, the association of INDELs and VNTRs in these neurotransmitters’ metabolism and transport genes with obesity is also reviewed. Next, the role of INS VNTR in obesity and its related traits is questionable, since recent large-scale studies failed to replicate the earlier positive associations. As obesity results in chronic low-grade inflammation of the adipose tissue, the proinflammatory cytokine gene IL1RA and anti-inflammatory cytokine gene IL4 have VNTRs that are implicated in obesity. A systemic proinflammatory state in combination with activation of the renin–angiotensin system and decreased nitric oxide bioavailability as found in obesity leads to endothelial dysfunction. This explains why VNTR and INDEL in eNOS and ACE, respectively, could be predisposing factors of obesity. Finally, two novel genes, DOCK5 and PER3, which are involved in the regulation of the Akt/MAPK pathway and circadian rhythm, respectively, have VNTRs and INDEL that might be associated with obesity.Short conclusionIn conclusion, INDELs and VNTRs could have important functional consequences in the pathophysiology of obesity, and research on them should be continued to facilitate obesity prediction, prevention, and treatment.

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“…Dias, Muc, Padez y Manco (2016) (18) estudiaron la relación del polimorfismo 5-HTTLPR y el riesgo de SP-OB, su estudio se conformó de una muestra general, un grupo de deportistas y el grupo que no practicaba algún deporte, en la muestra general y en el grupo que realizaba alguna actividad física no se observaron asociaciones, sin embargo, en el grupo de participantes no deportistas se observó asociación entre el riesgo de SP-OB y el tener el polimorfismo 5-HTTLPR (OR [95% CI] = 0.64 [0.45 -0.91] p = 0.01), lo que sugiere que la inactividad física acentúa la influencia entre el polimorfismo (5-HTTLPR) y en el riesgo de desarrollar OB.…”

Section: Síntesis De Resultadosunclassified

Exceso de peso y depresión asociados al Polimorfismo del Gen Transportador de la Serotonina (5-HTTLPR): Una revisión sistemática

Hernández

Flores-Peña

2021

Enf Global

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Introducción: El exceso de peso y la depresión han sido objeto de estudio por su elevada prevalencia en la población, la evidencia refiere que existe una bidireccionalidad de origen y desarrollo entre éstas enfermedades. Además, la carga genética se ha asociado significativamente en estas enfermedades, un ejemplo es el polimorfismo de la región promotora del gen transportador de la serotonina (5-HTTLPR), estudios reportan que este factor genético puede condicionar y agravar los síntomas presentes de ambas condiciones. Objetivo: Recopilar, revisar y analizar estudios publicados de la relación que existe entre polimorfismo 5-HTTLPR para el desarrollo de la depresión en personas con sobrepeso-obesidad. Métodos: Por medio de los lineamientos del checklist de PRISMA se realizó una búsqueda sistemática en las bases de datos: PubMed, Scopus, Web of Science (Science Citation Index Expanded y Social Sciences Citation Index) y EBSCO (Academic Search Complete, Fuente Académica y MedicLatina). La plataforma Web 3.0: Ficheros de Lectura Crítica se utilizó para analizar la calidad de los estudios.Resultados: Se incluyeron siete estudios, los cuales aportaron evidencia de la relación entre el polimorfismo 5-HTTLPR, la depresión y el aumento de IMC/sobrepeso-obesidad. Conclusión: La evidencia analizada demuestra que el polimorfismo 5-HTTLPR está ligado al desarrollo y síntomas de la depresión y obesidad. Información que debe considerar el personal de salud para poder realizar tratamientos y planes de cuidado acorde a las necesidades de los individuos con estas condiciones. Background: Excess weight and depression have been studied due to the high prevalence in the population, the evidence indicates that there is a bidirectionality of origin and development of these diseases. Additionally, genetic load has been significantly associated in these diseases, an example is the polymorphism of the promoter region of the serotonin transporter gene (5-HTTLPR), studies report that this genetic factor can condition and aggravate the symptoms present in both conditions. Objective: Collect, review, and analyze published studies of the relationship between 5-HTTLPR polymorphism for the development of depression in overweight-obese people.Methods: Using the PRISMA checklist guidelines, a systematic search was performed in the databases: PubMed, Scopus, Web of Science (Science Citation Index Expanded and Social Sciences Citation Index) and EBSCO (Academic Search Complete, Academic Source and MedicLatina). The Web 3.0 platform: Critical Reading Files was used to analyze the quality of the studiesResults: Seven studies were included, which provided evidence of the relationship between 5-HTTLPR polymorphism, depression and increased BMI / overweight-obesity.Conclusion: The evidence analyzed shows that the 5-HTTLPR polymorphism is linked to the development and symptoms of depression and obesity. Information that health personnel must consider in order to carry out treatments and care plans according to the needs of individuals with these conditions.

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Association of polymorphisms in 5-HTT (SLC6A4) and MAOA genes with measures of obesity in young adults of Portuguese origin

Cited by 24 publications

References 37 publications

Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective

Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective

The association of insertions/deletions (INDELs) and variable number tandem repeats (VNTRs) with obesity and its related traits and complications

Exceso de peso y depresión asociados al Polimorfismo del Gen Transportador de la Serotonina (5-HTTLPR): Una revisión sistemática

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