Body Adiposity Changes After Lifestyle Interventions in Children/Adolescents and the NYD-SP18 and TMEM18 Variants

Zlatohlávek, L.; Maratka, Vit; Tůmová, E.; Češka, Richard; Lánská, Věra; Vráblík, Michal; Hubacek, Jaroslav A.

doi:10.12659/msm.907180

Cited by 6 publications

(17 citation statements)

References 23 publications

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“…Moreover, all sperm characteristics of allelic variants were within the normal range according to the WHO reference values [World Health Organization (WHO), 2010]. Interestingly, extra-testicular effects have also been shown for the SNP marker (rs6971091) of this gene, in particular on obesity (Wilk et al, 2008;Gupta et al, 2012;Zlatohlavek et al, 2018).…”

Section: Discussionmentioning

confidence: 92%

Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population

et al. 2021

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The global trend toward the reduction of human spermatogenic function observed in many countries, including Russia, raised the problem of extensive screening and monitoring of male fertility and elucidation of its genetic and ethnic mechanisms. Recently, whole-exome sequencing (WES) was developed as a powerful tool for genetic analysis of complex traits. We present here the first Russian WES study for identification of new genes associated with semen quality. The experimental 3 × 2 design of the WES study was based on the analysis of 157 samples including three ethnic groups—Slavs (59), Buryats (n = 49), and Yakuts (n = 49), and two different semen quality groups—pathozoospermia (n = 95) and normospermia (n = 62). Additionally, our WES study group was negative for complete AZF microdeletions of the Y-chromosome. The normospermia group included men with normal sperm parameters in accordance with the WHO-recommended reference limit. The pathozoospermia group included men with impaired semen quality, namely, with any combined parameters of sperm concentration <15 × 106/ml, and/or progressive motility <32%, and/or normal morphology <4%. The WES was performed for all 157 samples. Subsequent calling and filtering of variants were carried out according to the GATK Best Practices recommendations. On the genotyping stage, the samples were combined into four cohorts: three sets corresponded to three ethnic groups, and the fourth set contained all the 157 whole-exome samples. Association of the obtained polymorphisms with semen quality parameters was investigated using the χ2 test. To prioritize the obtained variants associated with pathozoospermia, their effects were determined using Ensembl Variant Effect Predictor. Moreover, polymorphisms located in genes expressed in the testis were revealed based on the genomic annotation. As a result, the nine potential SNP markers rs6971091, rs557806, rs610308, rs556052, rs1289658, rs278981, rs1129172, rs12268007, and rs17228441 were selected for subsequent verification on our previously collected population sample (about 1,500 males). The selected variants located in seven genes FAM71F1, PPP1R15A, TRIM45, PRAME, RBM47, WDFY4, and FSIP2 that are expressed in the testis and play an important role in cell proliferation, meiosis, and apoptosis.

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Section: Discussionmentioning

confidence: 92%

Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population

et al. 2021

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“…Other significant results summarized in Table 3 are related to DNA methylation differences between the exposed and control group in twelve additional genes. Among them, TMEM18 gene seems to be mostly identified in various studies prevalently dealing with the topic of obesity, including adiposity, in relation to specific polymorphisms [39,40]. Single nucleotide polymorphisms (SNPs) were not analyzed in our study, but due to analyzed DNA methylation differences and no differences in BMI between the groups, we cannot exclude the effect of NP exposure on the metabolism of lipids driven by significant changes in DNA methylation.…”

Section: Discussionmentioning

confidence: 97%

DNA Methylation Profiles in a Group of Workers Occupationally Exposed to Nanoparticles

Rössnerová

Hoňková

Pelclová

et al. 2020

IJMS

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The risk of exposure to nanoparticles (NPs) has rapidly increased during the last decade due to the vast use of nanomaterials (NMs) in many areas of human life. Despite this fact, human biomonitoring studies focused on the effect of NP exposure on DNA alterations are still rare. Furthermore, there are virtually no epigenetic data available. In this study, we investigated global and gene-specific DNA methylation profiles in a group of 20 long-term (mean 14.5 years) exposed, nanocomposite, research workers and in 20 controls. Both groups were sampled twice/day (pre-shift and post-shift) in September 2018. We applied Infinium Methylation Assay, using the Infinium MethylationEPIC BeadChips with more than 850,000 CpG loci, for identification of the DNA methylation pattern in the studied groups. Aerosol exposure monitoring, including two nanosized fractions, was also performed as proof of acute NP exposure. The obtained array data showed significant differences in methylation between the exposed and control groups related to long-term exposure, specifically 341 CpG loci were hypomethylated and 364 hypermethylated. The most significant CpG differences were mainly detected in genes involved in lipid metabolism, the immune system, lung functions, signaling pathways, cancer development and xenobiotic detoxification. In contrast, short-term acute NP exposure was not accompanied by DNA methylation changes. In summary, long-term (years) exposure to NP is associated with DNA epigenetic alterations.

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“…Under the guidance of trained staff, patients were placed on a daily diet and physical activity regimen for the duration of their stay at the facility. Patients, measurements and interventions have been described in detail previously [28,29].…”

Section: Methodsmentioning

confidence: 99%

Baseline Leptin/Adiponectin Ratio is a Significant Predictor of BMI Changes in Children/Adolescents after Intensive Lifestyle Intervention

Pejšová

Hubacek

Zemánková

et al. 2019

Exp Clin Endocrinol Diabetes

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Introduction Abdominal obesity is a strong cardiometabolic risk factor that often occurs as early as in childhood. The negative effect of abdominal obesity on the metabolism is partially mediated by changes to the production of the major adipocyte hormones leptin and adiponectin. Leptin/adiponectin imbalance is associated with increased risk of developing obesity and type 2 diabetes mellitus. Aim To determine whether leptin, adiponectin and the leptin/adiponectin ratio are significant predictors of body weight loss in intensively treated children/adolescents. Methods 183 paediatric overweight or obese patients (71 boys and 112 girls), aged 7–16 years, were enrolled in a one-month intensive lifestyle intervention programme. Participants reduced their energy intake and engaged in a supervised exercise programme consisting of 5 physical activity units per day. The subjects were examined both before and after the intervention. Results The mean BMI decrease achieved was−2.38±0.07 kg/m² (P<0.01). The decrease in plasma leptin concentration was−16.59±0.84 ng/mL (P<0.001) and CRP−0.38±0.04 mg/L (P<0.001). Changes in adiponectin concentrations were not statistically significant. The baseline leptin/adiponectin ratio was a significant predictor of decreases in body weight (P<0.005), BMI (P<0.0001) and waist circumference (P<0.05). Conclusion The leptin/adiponectin ratio at baseline may be a useful predictor of results from interventions focused on decreasing BMIs in children/adolescents.

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Body Adiposity Changes After Lifestyle Interventions in Children/Adolescents and the NYD-SP18 and TMEM18 Variants

Cited by 6 publications

References 23 publications

Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population

Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population

DNA Methylation Profiles in a Group of Workers Occupationally Exposed to Nanoparticles

Baseline Leptin/Adiponectin Ratio is a Significant Predictor of BMI Changes in Children/Adolescents after Intensive Lifestyle Intervention

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