Unleash the Association of Mitochondrial Uncoupling Protein (UCP2) Promoter Variant (G-866A; rs659366) with Obesity: Stepping from a Case–Control Study to a Meta-analysis

Daim, Hamada A. Abd El; Elsaid, A.; Mousa, Amany A; El-Eshmawy, Mervat M; Lashin, Lashin S.; Toraih, Eman A.; Elshazli, Rami M.

doi:10.1007/s10528-020-09973-y

Cited by 7 publications

(5 citation statements)

References 60 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…G(-866)A polymorphism of the UCP2 gene is located in the promoter region that probably affects gene expression [8,20]. Some studies approved the relationship between this polymorphism and type 2 diabetes [13] and obesity [12] but there is only one research about the association between rs659366 and presbycusis in an Indian population [8].…”

Section: Discussionmentioning

confidence: 99%

“…Genetic variations in this gene lead to an increase in ROS and cell damage in the inner ear. Recent studies have con rmed the association between G-866A polymorphism of the UCP2 gene with obesity [12] and diabetes [13] but there is only one research about this single nucleotide polymorphism (SNP) and presbycusis disease in the Indian population [8].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Study the association of NAT2 590G>A and UCP2 G(-866)A genetic variations with presbycusis risk

Karimnia,

Jazayeri,

Karimian

et al. 2023

Preprint

View full text Add to dashboard Cite

Background Presbycusis is a sensory disorder that is highly prevalent in older adults. Various genetic and non-genetic (environmental) factors are involved in the development of presbycusis. One of the main factors involved in the pathology of presbycusis is oxidative stress. NAT2 and UCP2 genes have an important function by detoxification of xenobiotics and controlling the amount of reactive oxygen species (ROS), respectively. Alterations in these genes cause the accumulation of ROS and ultimately cell damage in the inner ear, which itself can lead to hearing disorders including presbycusis. Methods and Results This study aimed to investigate the association of NAT2 590G > A (rs 1799930) and UCP2 G(-866)A (rs659366) with the risk of presbycusis in an Iranian population. In this case-control study, 120 healthy people and 120 patients with presbycusis were enrolled. Genotypes of mentioned polymorphisms were determined by using a PCR-RFLP protocol. According to data analysis, the AA genotype of the UCP2 gene (OR = 3.200, 95% CI = 0.1.216–8.416, p = 0.018), A allele, (OR = 1.679, 95% CI = 1.14–2.473, p = 0.008) and the dominant GA + AA/GG model (OR = 1.8421, 95% CI = 1.1009–3.0822, p = 0.02) were associated to the increased risk of presbycusis. Bioinformatics analysis of this polymorphism revealed that it changes one of the CpG islands in the promoter region and may consequently alter UCP2 gene expression. Conclusions There was no significant association between NAT2 590G > A polymorphism and presbycusis risk. Our findings highlight UCP2 G(-866)A polymorphism as a biomarker in the diagnosis of presbycusis disease.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Study the association of NAT2 590G>A and UCP2 G(-866)A genetic variations with presbycusis risk

Karimnia,

Jazayeri,

Karimian

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…Logistic regression analysis was assessed to determine the adjusted odds ratio (OR) with a 95% confidence interval (CI) of multiple genetic association models. 27 The evaluation of principal component analysis (PCA) was conducted utilizing the "factoextra" and "FactoMineR" packages. P < .05 was adapted to be statistically significant.…”

Section: Discussionmentioning

confidence: 99%

“…The estimation of the Hardy‐Weinberg equation and the analysis of the MIR17HG rs4284505 variant among patients with SLE and healthy controls was computed utilizing SNPstats (http://www.SNPstats.org). Logistic regression analysis was assessed to determine the adjusted odds ratio (OR) with a 95% confidence interval (CI) of multiple genetic association models 27 . The evaluation of principal component analysis (PCA) was conducted utilizing the “factoextra” and “FactoMineR” packages.…”

Section: Methodsmentioning

confidence: 99%

Association of microRNA 17 host gene variant (rs4284505) with susceptibility and severity of systemic lupus erythematosus

Abdel-Gawad

Shaheen

Babteen

et al. 2020

Immunity Inflam & Disease

Self Cite

View full text Add to dashboard Cite

Objective MicroRNAs are large family clusters of small noncoding RNAs that implicated in genetic and epigenetic regulation of several immunological processes and pathways. As an epigenetic modifier, the microRNA 17‐92 cluster host gene (MIR17HG) has been shown to regulate the expression of genes involved in systemic lupus erythematosus (SLE) pathway. This study aimed to explore the association of MIR17HG (rs4284505; A>G) variant with SLE development and phenotype in a sample of the Eastern Mediterranean population. Methods A total of 326 participants (163 patients with SLE and 163 healthy controls) were enrolled in this study. The different genotypes of the MIR17HG (rs4284505) variant were characterized using the TaqMan real‐time polymerase chain reaction technique. Association with the available clinical and laboratory data, including the systemic lupus erythematosus disease activity index (SLEDAI), was also executed. Results The MIR17HG (rs4284505) variant showed a protective effect against developing SLE under heterozygote (A/G vs A/A; odds ratio [OR] = 0.10, 95% confidence interval [CI] = 0.05‐0.20, P < 0.001) and dominant (A/G+G/G vs A/A; OR = 0.39, 95% CI = 0.25‐0.61, P < .001) models. This association was consistent even after SLE stratified by lupus nephritis. In contrast, rs4284505 (G/G) genotype conferred increased susceptibility to SLE (G/G vs A/A+A/G; OR = 2.15, 95% CI = 1.31‐3.53, P = .002). Moreover, the rs4284505 variant showed a statistically significant association with mucocutaneous lesions and SLEDAI scores (all P < .05). Conclusion This study is the first one to explore that the MIR17HG rs4284505 is associated with SLE risk; (A/G) genotype conferred a protective effect, while the (G/G) genotype showed increased susceptibility to SLE and association with the disease severity in the study population.

show abstract

“…Conversely, the -866 G>A polymorphism localized in the promoter region of UCP2 gene, involved in heat dissipation, has been associated with a reduced risk of obesity [221]. The A allele promotes UCP2 overexpression in the liver and has a protective role in the progression from simple steatosis to NASH [222].…”

Section: Mitochondrial Polymorphisms Are Correlated With Nafld Pathogmentioning

confidence: 99%

Remodeling of Mitochondrial Plasticity: The Key Switch from NAFLD/NASH to HCC

Longo¹,

Paolini²,

Meroni³

et al. 2021

Preprint

View full text Add to dashboard Cite

Hepatocellular carcinoma (HCC) is the most common primary malignancy of the liver and the third-leading cause of cancer-related mortality. Currently, the global burden of nonalcoholic fatty liver disease (NAFLD) has dramatically overcome both viral and alcohol hepatitis thus becoming the main cause of HCC incidence. NAFLD pathogenesis is severely influenced by lifestyle and genetic predisposition. Mitochondria are highly dynamic organelles which may adapt in response to environment, genetics and epigenetics in the liver (“mitochondrial plasticity”). Mounting evidence highlighted that mitochondrial dysfunction due to loss of mitochondrial flexibility, may arise before overt NAFLD and since the early stages of liver injury. Mitochondrial failure not only promotes hepatocellular damage, but also release signals (mito-DAMPs) which trigger inflammation and fibrosis, generating an adverse microenvironment in which several hepatocytes select anti-apoptotic programs and mutations that may allow survival and proliferation. Furthermore, one of the key events in malignant hepatocytes is represented by remodeling of glucidic-lipidic metabolism combined to reprogramming of mitochondrial functions, optimized to deal with energy demand. In sum, this review will discuss how mitochondrial defects may be translated into causative explanations of NAFLD-driven HCC, emphasizing future directions for research purposes and for development of potential preventive or curative strategies.

show abstract

Unleash the Association of Mitochondrial Uncoupling Protein (UCP2) Promoter Variant (G-866A; rs659366) with Obesity: Stepping from a Case–Control Study to a Meta-analysis

Cited by 7 publications

References 60 publications

Study the association of NAT2 590G>A and UCP2 G(-866)A genetic variations with presbycusis risk

Study the association of NAT2 590G>A and UCP2 G(-866)A genetic variations with presbycusis risk

Association of microRNA 17 host gene variant (rs4284505) with susceptibility and severity of systemic lupus erythematosus

Remodeling of Mitochondrial Plasticity: The Key Switch from NAFLD/NASH to HCC

Contact Info

Product

Resources

About

Unleash the Association of Mitochondrial Uncoupling Protein (UCP2) Promoter Variant (G-866A; rs659366) with Obesity: Stepping from a Case–Control Study to a Meta-analysis

Cited by 7 publications

References 60 publications

Study the association of NAT2 590G&gt;A and UCP2 G(-866)A genetic variations with presbycusis risk

Study the association of NAT2 590G&gt;A and UCP2 G(-866)A genetic variations with presbycusis risk

Association of microRNA 17 host gene variant (rs4284505) with susceptibility and severity of systemic lupus erythematosus

Remodeling of Mitochondrial Plasticity: The Key Switch from NAFLD/NASH to HCC

Contact Info

Product

Resources

About

Study the association of NAT2 590G>A and UCP2 G(-866)A genetic variations with presbycusis risk

Study the association of NAT2 590G>A and UCP2 G(-866)A genetic variations with presbycusis risk