Relationships between &lt;em&gt;FTO&lt;/em&gt; rs9939609, &lt;em&gt;MC4R&lt;/em&gt; rs17782313, and  &lt;em&gt;PPAR&amp;gamma;&lt;/em&gt; rs1801282 polymorphisms and the occurrence of selected metabolic and hormonal disorders in middle-aged and elderly men &amp;ndash; a preliminary study

Rotter, Iwona; Skonieczna-Żydecka, Karolina; Kosik-Bogacka, Danuta; Adler, Grażyna; Rył, Aleksandra

doi:10.2147/cia.s120253

Cited by 13 publications

(8 citation statements)

References 59 publications

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“…Lipid profile disturbances as a component of metabolic syndrome were also analysed in the conducted research. Similar to this study, other studies conducted in Poland [9,11] and Greece [14] did not find a statistically significant association between MC4R SNP in rs17782313 and the lipid profile of patients. There is only one study reporting a reduced risk of lipid disturbances among individuals with T allele in a group of Polish postmenopausal women [8].…”

Section: Discussionsupporting

confidence: 88%

“…In the presented work no significant association between MC4R SNP in rs17782313 and obesity was found. This observation is in line with two similar studies conducted in Poland [9,11] and one carried out in the Czech Republic [12]. On the contrary, other population studies conducted in Pakistan [13] and Greece [14] showed that homozygotes CC have a higher risk of obesity; similarly, in the Romania population heterozygotes CT are more predisposed to obesity [15].…”

Section: Discussionsupporting

confidence: 87%

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MC4R polymorphism in rs17782313 influences on insulin resistance

Szywacz

Mielcarska

Poręba

et al. 2021

Medical Research Journal

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Introduction: There are many factors responsible for the development of metabolic syndrome -mainly associated with lifestyle, but also genetic ones. MC4R (melanocortin 4 receptor) genes variants have been associated with the risk of developing obesity, type 2 diabetes mellitus and coronary artery disease.Aim of the study: To investigate the association between MC4R rs17782313 polymorphism and concentrations of glucose, insulin, HOMA-IR and QUICKI values in the whole study group.Materials and methods: Study group consisted of 294 patients (136 men and 158 women). Collected venous blood samples were stored at -70 0 C until the study group was completed. In the laboratory of Clinical Hospital 1 in Zabrze, the DNA materials were isolated, proper concentration of the DNA (15 ng/μL) were prepared and quality and quantity were checked by spectrophotometry. Allelic discrimination was performed with the use of fluorescent-labelled TaqMan Pre-designed SNP Genotyping Assay probes.Results: No statistically significant differences in concentrations of cholesterol, HDL, LDL, TG between genotypes in women and men were observed. In the whole group of patients, glucose and insulin levels did not differ significantly between TT, CT and CC carriers. Significant differences in values of HOMA-IR and QUICKI between TT, CT and CC carriers as well as between TT carriers and CT+CC carriers were found.CC+TT carriers have a significantly lower value of HOMA-IR and higher QUICKI value than TT carriers.Conclusions: MC4R polymorphism in rs17782313 may be associated with insulin resistance. Further studies are necessary to completely assess the association between investigated polymorphism, insulin resistance and risk of diabetes mellitus development.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionsupporting

confidence: 87%

MC4R polymorphism in rs17782313 influences on insulin resistance

Szywacz

Mielcarska

Poręba

et al. 2021

Medical Research Journal

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“…Zhang, et al, 2014) and promotes metabolic syndrome (Keramati, et al, 2014). In addition to the list of genes mentioned above, genetic polymorphism of the lamin A/C (LMNA) (Ji, et al, 2016), insulin receptor substrate 1 (IRS1) (Kloting & Bluher, 2014), melanocortin receptor 4 (MC4R) (Ruiz-Ramirez, Lopez-Acosta, Barrios-Maya, & El-Hafidi, 2016), TCF7L2 (transcription factor 7-like 2) (Palizban, Rezaei, Khanahmad, & Fazilati, 2017), fat mass and obesity associated gene (FTO) (Elouej, et al, 2016; Rotter, et al, 2016) have also been documented to be associated with increased prevalence of cardiorenal metabolic syndrome.…”

Section: Pathophysiology Of the Cardiorenal Metabolic Syndromementioning

confidence: 99%

Autophagy as an emerging target in cardiorenal metabolic disease: From pathophysiology to management

Zhang

Whaley‐Connell

Sowers

et al. 2018

Pharmacology & Therapeutics

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Although advances in medical technology and health care have improved the early diagnosis and management for cardiorenal metabolic disorders, the prevalence of obesity, insulin resistance, diabetes, hypertension, dyslipidemia, and kidney disease remains high. Findings from numerous population-based studies, clinical trials, and experimental evidence have consolidated a number of theories for the pathogenesis of cardiorenal metabolic anomalies including resistance to the metabolic action of insulin, abnormal glucose and lipid metabolism, oxidative and nitrosative stress, endoplasmic reticulum (ER) stress, apoptosis, mitochondrial damage, and inflammation. Accumulating evidence has recently suggested a pivotal role for proteotoxicity, the unfavorable effects of poor protein quality control, in the pathophysiology of metabolic dysregulation and related cardiovascular complications. The ubiquitin-proteasome system (UPS) and autophagy-lysosomal pathways, two major although distinct cellular clearance machineries, govern protein quality control by degradation and clearance of long-lived or damaged proteins and organelles. Ample evidence has depicted an important role for protein quality control, particularly autophagy, in the maintenance of metabolic homeostasis. To this end, autophagy offers promising targets for novel strategies to prevent and treat cardiorenal metabolic diseases. Targeting autophagy using pharmacological or natural agents exhibits exciting new strategies for the growing problem of cardiorenal metabolic disorders.

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“…This is supported by the associations we observed between FTO variants and components of the MetS, particularly with WC and SBP. Various candidate gene studies have observed association between FTO variants and MetS in adults 71,73,77,93 across different ethnicities 73,76,93,94 . Our results confirm the association of FTO variants and MetS in children and adolescent populations via its implication in the regulation of body fatness.…”

Section: Discussionmentioning

confidence: 99%

Common genetic variation in obesity, lipid transfer genes and risk of Metabolic Syndrome: Results from IDEFICS/I.Family study and meta-analysis

Nagrani

Foraita

Gianfagna

et al. 2020

Sci Rep

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As the prevalence of metabolic syndrome (MetS) in children and young adults is increasing, a better understanding of genetics that underlie MetS will provide critical insights into the origin of the disease. We examined associations of common genetic variants and repeated MetS score from early childhood to adolescence in a pan-european, prospective iDeficS/i.family cohort study with baseline survey and follow-up examinations after two and six years. We tested associations in 3067 children using a linear mixed model and confirmed the results with meta-analysis of identified SNPs. With a stringent Bonferroni adjustment for multiple comparisons we obtained significant associations(p < 1.4 × 10 −4 ) for 5 SNPs, which were in high LD (r 2 > 0.85) in the 16q12.2 non-coding intronic chromosomal region of FTO gene with strongest association observed for rs8050136 (effect size(β) = 0.31, p Wald = 1.52 × 10 −5 ). We also observed a strong association of rs708272 in CETP with increased HDL (p = 5.63 × 10 −40 ) and decreased tRG (p = 9.60 × 10 −5 ) levels. These findings along with meta-analysis advance etiologic understanding of childhood MetS, highlighting that genetic predisposition to MetS is largely driven by genes of obesity and lipid metabolism. inclusion of the associated genetic variants in polygenic scores for MetS may prove to be fundamental for identifying children and subsequently adults of the high-risk group to allow earlier targeted interventions.A collection of risk factors, including central obesity, insulin resistance, dyslipidemia, and hypertension, describes metabolic syndrome (MetS). Additionally, MetS is a known precursor in cardiovascular disease development 1 . MetS has become a major public health concern globally due to its increasing prevalence and association with various chronic diseases 2 . MetS etiology is quite complex, involving a strong interplay between multiple genetic, environmental and lifestyle-related factors. In European ancestry, the heritability of the MetS was estimated to be between 13-30% 3,4 . The early prognosis of MetS is therefore extremely valuable for early detection of individuals at high genetic risk of developing the disease later in life and for encouraging change in lifestyle to reduce risk. While numerous single nucleotide polymorphisms (SNPs) associated with individual metabolic components and diseases have been reported in genome-wide association studies (GWAS) 5-8 , the effect of these polymorphisms on the MetS network and related diseases is not well studied.Further, of all MetS components, lipid levels seem under higher genetic determination 9 . This has also been observed in the genetic association studies suggesting that genetic effects on lipid levels are more pronounced than for other traits 10 . Most of the genetic association studies for MetS have been conducted in adult population 5,10,11 and are limited by the usage of one-point measurements 7,[12][13][14] . As the prevalence of MetS in children and young adults is increasing 15 , a better understanding ...

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Relationships between <em>FTO</em> rs9939609, <em>MC4R</em> rs17782313, and <em>PPARγ</em> rs1801282 polymorphisms and the occurrence of selected metabolic and hormonal disorders in middle-aged and elderly men – a preliminary study

Cited by 13 publications

References 59 publications

MC4R polymorphism in rs17782313 influences on insulin resistance

MC4R polymorphism in rs17782313 influences on insulin resistance

Autophagy as an emerging target in cardiorenal metabolic disease: From pathophysiology to management

Common genetic variation in obesity, lipid transfer genes and risk of Metabolic Syndrome: Results from IDEFICS/I.Family study and meta-analysis

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