Lipid regulatory genes polymorphism in children with and without obesity and cardiometabolic risk factors: The CASPIAN?III study

Silva Hovsepian, Shaghayegh Haghjooy Javanmard, Marjan Mansourian, Mahin Hashemipour, Mohamadhasan Tajadini, Roya Kelishadi


Background: Genetically, predisposed children are considered as at?risk individuals for cardiovascular disease. In this study, weaimed to compare the frequency of four?lipid regulatory polymorphism in obese and normal?weight children with and withoutcardiometabolic risk factors. Materials and Methods: In this nested case–control study, 600 samples of four groups of participantsconsisted of those with normal weight with and without cardiometabolic risk factors and obese with and without cardiometabolic risk factors. Allelic and genotypic frequencies of GCKR (rs780094), GCKR (rs1260333), MLXIPL (rs3812316), and FADS (rs174547)polymorphisms were compared in the four studied groups. Results: Data of 528 samples were complete and included in this study.
Te mean (standard deviation) age of participants was 15.01 (2.21) years. Frequency of tt allele (minor allele) of GCKR (rs1260333)polymorphism was significantly lower in normal weight metabolically healthy participants than metabolically unhealthynormal weight (MUHNW) and obese children with and without cardiometabolic risk factor (P = 0.01). Frequency of ga allele ofGCKR (rs780094) polymorphism was signifcantly higher in normal weight children with cardiometabolic risk factor than in theirobese counterparts with cardiometabolic risk factor (P = 0.04). Frequency of cg and gg alleles (minor type) of MLXIPL (rs3812316)polymorphism in normal weight metabolically healthy participants was signifcantly higher than MUHNW (P = 0.04) and metabolicallyhealthy obese children (P = 0.04). Conclusion: Te fndings of our study indicated that the minor allele of GCKR (rs1260333)single nucleotide polymorphisms (SNPs) could have pathogenic e?ect for obesity and cardiometabolic risk factors. Ga allele of
GCKR (rs780094) SNPs had a protective e?ect on obesity. Minor alleles of MLXIPL (rs3812316) could have a protective e?ect forobesity and cardiometabolic risk factors.


Children, fatty acid desaturases, glucokinase regulatory protein, metabolic syndrome, MLXIPL protein, obesity, polymorphism

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