Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism

Rojas, Marcos Palacio; Prieto, Carem; Bermúdez, Valmore; Garicano, Carlos; Nava, Trina Núñez; Martínez, María Sofía; Salazar, Juan; Rojas, Edward; Pérez, Aurelio Luis Wangüemert; Vicuña, Paulo Marca; Martínez, Natalia González; Parra, Santiago Maldonado; Hoedebecke, Kyle; D’Addosio, Rosanna; Cano, Clímaco; Rojas, Joselyn

doi:10.12688/f1000research.12938.2

Cited by 11 publications

(6 citation statements)

References 77 publications

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“…In contrast to these findings, Hall and colleagues found no ethnic variation in the frequencies of five common LPL gene mutations related to circulating TG levels (-93T/G, D9N, N291S, S447X, and the Hind III) 85 86 87 90 91 92 in individuals of South Asian, white European, and African descent 88 . However, no meaningful association of these mutations was observed with fasting TG concentrations.…”

Section: Lipoprotein Lipase Activitymentioning

confidence: 85%

Postprandial Metabolism and Physical Activity in Asians: A Narrative Review

et al. 2021

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The widespread benefits of physical activity in enhancing health and lowering the risk of non-communicable chronic diseases are well established across populations globally. Nevertheless, the prevalence of several lifestyle-related chronic diseases, including cardiovascular disease, varies markedly across countries and ethnicities. Direct ethnic comparative studies on the health benefits of physical activity are sparse and evidence-based physical activity guidelines are not ethnicity-specific. Indeed, physical activity guidelines in some Asian countries were developed primarily based on data from Western populations even though the magnitude of potential benefit may not be the same among different ethnic groups. Unfavorable diurnal perturbations in postprandial triglycerides and glucose are risk factors for cardiovascular disease. This narrative review summarizes differences in these risk factors primarily between individuals of Asian and white European descent but also within different Asian groups. Moreover, the variable effects of physical activity on mitigating risk factors among these ethnic groups are highlighted along with the underlying metabolic and hormonal factors that potentially account for these differences. Future ethnic comparative studies should include investigations in understudied ethnic groups, such as those of East Asian origin, given that the effectiveness of physical activity for ameliorating cardiovascular disease varies even among Asian groups.

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Section: Lipoprotein Lipase Activitymentioning

confidence: 85%

Postprandial Metabolism and Physical Activity in Asians: A Narrative Review

et al. 2021

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“…Notably, this is associated with low levels of plasma triglycerides and increases in HDL cholesterol in healthy subjects. However, in subjects with obesity, this allele instead is associated with elevated levels of plasma triglycerides ( Palacio-Rojas et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes

et al. 2023

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Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular disease. Unhealthy lifestyles, the pre-existence of diseases, and the accumulation of genetic variants in some loci contribute to the development of dyslipidemia. The genetic causality behind these diseases has been studied primarily on populations with extensive European ancestry. Only some studies have explored this topic in Costa Rica, and none have focused on identifying variants that can alter blood lipid levels and quantifying their frequency. To fill this gap, this study focused on identifying variants in 69 genes involved in lipid metabolism using genomes from two studies in Costa Rica. We contrasted the allelic frequencies with those of groups reported in the 1000 Genomes Project and gnomAD and identified potential variants that could influence the development of dyslipidemias. In total, we detected 2,600 variants in the evaluated regions. However, after various filtering steps, we obtained 18 variants that have the potential to alter the function of 16 genes, nine variants have pharmacogenomic or protective implications, eight have high risk in Variant Effect Predictor, and eight were found in other Latin American genetic studies of lipid alterations and the development of dyslipidemia. Some of these variants have been linked to changes in blood lipid levels in other global studies and databases. In future studies, we propose to confirm at least 40 variants of interest from 23 genes in a larger cohort from Costa Rica and Latin American populations to determine their relevance regarding the genetic burden for dyslipidemia. Additionally, more complex studies should arise that include diverse clinical, environmental, and genetic data from patients and controls and functional validation of the variants.

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“…It is suggested that the pathogenesis involves an interaction between genetic, environmental and eventually epigenetic factors. Epigenetic factors, including microRNAs, not only represent a key for understanding the complexity of vascular diseases in these patients but also represent a new field of investigation to discover new diagnostic and prognostic markers ( 6 ).…”

Section: Introductionmentioning

confidence: 99%

Association of Exosomal miR-34a with Markers of Dyslipidemia and Endothelial Dysfunction in Children and Adolescents with T1DM

Ibrahim

Wahby

Ashmawy

et al. 2020

Jcrpe

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Objective: Dyslipidemia and endothelial dysfunction are common disorders and major causative factors for atherosclerosis in patients with type 1 diabetes mellitus (T1DM). However, their pathophysiology in young patients with T1DM is still under evaluated. We aimed, for the first time, to assess the expression of exosomal micro-RNA 34a (miR-34a) in serum of children and adolescents with T1DM and correlate this expression with markers of dyslipidemia and endothelial dysfunction. Methods: The study included 120 T1DM patients and 100 control subjects. Assessment of miR-34a was performed using quantitative real-time polymerase chain reaction. Lipid profile was assessed on an automated analyzer and serum endoglin and intracellular adhesion molecule (ICAM) concentrations were measured using immunometric methods. Results: Relative expression of miR-34a and serum endoglin and ICAM concentrations were higher in patients than controls (p=0.001) and in patients with dyslipidemia (42 patients) compared to patients without dyslipidemia (78 patients) (p=0.01). Linear regression analysis revealed a strong independent association between exosomal miR-34a expression and total cholesterol, low-density lipoprotein, serum endoglin and serum ICAM after adjustment for other cofactors. The utility of miR-34a as an indicator for associated dyslipidemia was tested using receiver operator characteristic curve analysis which revealed area under the curve: 0.73 with confidence interval: 0.63-0.83 and p=0.001. Conclusion: This was the first study to show the altered expression of exosomal miR-34a among children and adolescents with T1DM. Moreover, association of miR-34a with markers of dyslipidemia and endothelial dysfunction was identified, suggesting that it could play a role in regulation of lipid metabolism and endothelial function in T1DM.

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Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism

Cited by 11 publications

References 77 publications

Postprandial Metabolism and Physical Activity in Asians: A Narrative Review

Postprandial Metabolism and Physical Activity in Asians: A Narrative Review

Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes

Association of Exosomal miR-34a with Markers of Dyslipidemia and Endothelial Dysfunction in Children and Adolescents with T1DM

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