Polymorphisms in LEPR, PPARG and APM1 genes: associations with energy intake and metabolic traits in young children

IGF2, LEPR, POMC, PPARG, and PPARGC1 gene variants are associated with obesity-related risk phenotypes in Brazilian children and adolescents

“…We also observed an association between PPARGC1 rs8192678 and higher triacylglycerol concentration in adolescents, which is similar to the results of an adult study ( 34 ). Although we did not observe an association of PPARG rs1801282 with clinical, biochemical, or anthropometric characteristics in our study, the association of this SNP with higher glucose was reported in Brazilian children at 4 years of age ( 29 ).…”

“…Studies with children and adolescents did not reveal an association between this SNP and HDL or LDL cholesterol values, waist circumference, body fat percentage, insulin, triacylglycerides, glucose, total cholesterol, HOMA-IR, or blood pressure ( 27 , 28 ). Conflicting results have been reported for BMI ( 27 , 28 ), and higher daily energy intake was observed in Brazilian children at 4 years of age ( 29 ). Even though some studies showed an association between POMC rs28932472 and early age of obesity onset in children and adolescents ( 30 , 31 ), there is little information about the phenotypes associated with this SNP.…”

Validation of obesity susceptibility loci identified by genome‐wide association studies in early childhood in South Brazilian children

“…A more recent GWAS, published in 2013 by Wheeler et al , performed analyses with a high number of severely obese children and controls, identified nine genome‐wide significant signals in eight loci, named: FTO , MC4R , TMEM18 , NEGR1 , PRKCH , LEPR , PACS1 and RMST , the last four being detected in GWAS for the first time. Although their sample is not totally comparable with ours, because their study focused on children in the extreme tail of the BMI distribution (BMI‐Z more than 3 SD from the mean), we were able to replicate half of these findings in the present ( TMEM18 and NEGR1 ) and in previous studies performed with the same sample of children ( FTO and LEPR ). Of course, we must take in consideration that the specific gene variants were not the same, although located in or near the same genes, and that three of them ( PRKCH , PACS1 and RMST ) were not evaluated by us.…”

The Important Role of Adiponectin and Orexin-A, Two Key Proteins Improving Healthy Status: Focus on Physical Activity

“…Many data literature described the association between APM1 polymorphisms and increased incidence and susceptibility to metabolic disorders, but these data are still ambiguous. Nevertheless, several data have been produced about the effects of SNPs (single-nucleotide polymorphisms) in the APM1 gene on Adiponectin serum concentrations (Zandoná et al, 2013;Liu et al, 2019). The resulting protein is a 244 amino acid open reading frame containing 4 domains, a short N-terminal region, a hypervariable region with no homology to any known protein domain (secretory signal sequence of 66 amino acids), a collagen-like domain (Gly-X-Y repeats), and a C-terminal globular domain that presents a high homology to C1q (Kadowaki et al, 2006;Shehzad et al, 2012).…”

“…Although AdipoR1 expression is predominant in muscle while AdipoR2 is most abundantly expressed in the liver, both receptors are widely expressed in many cell types and tissues (Milasta et al, 2005). Moreover, the two receptors have preferable signaling pathways: AdipoR1 mainly induces the phosphorylation of AMP-activated protein kinase (AMPK), whereas AdipoR2 predominantly activates the peroxisome proliferator-activated receptor gamma (PPAR-γ or PPARG) (Zandoná et al, 2013). However, to date, the signaling pathways of the two receptors, have not been fully clarified.…”