Association Study Between Metabolic Syndrome and rs8066560 Polymorphism in the Promoter Region of Sterol Regulatory Element‑binding Transcription Factor 1 Gene in Iranian Children and Adolescents

Hajar Miranzadeh‑Mahabadi, Modjtaba Emadi‑Baygi, Parvaneh Nikpour, Roya Kelishadi


Background: Metabolic syndrome (MetS) is a prevalent disorder in pediatric age groups, described by a combination of genetic and environmental factors. Sterol regulatory element‑binding
transcription factor 1 (SREBF‑1) induces the expression of a family of genes involved in fatty acid synthesis. Moreover, dysregulation of miR‑33b, which is located within the intron 17 of the SREBF‑1 gene, disrupts fatty acid oxidation and insulin signaling, thus leading to MetS. The aim of the present study was to investigate the association between SREBF‑1 rs8066560 polymorphism and MetS in Iranian children and adolescents.

Methods: This study includes 100 MetS and 100 normal individuals aged 9–19 years. Anthropological and biochemical indexes were measured. The ‑1099G > A polymorphism was
genotyped by TaqMan real‑time polymerase chain reaction.

Results: Significant differences were observed in anthropometric measurements and lipid profiles between MetS and normal children. There were no differences in the genotype frequencies or allele distribution for ‑1099G > A polymorphism between MetS and control groups. High‑density lipoprotein cholesterol levels were significantly higher in the MetS GG group than in the A allele carrier group. The genotype AA controls had significantly increased cholesterol and low‑density lipoprotein cholesterol levels than AG genotypes. By logistic regression using different genetic models, no significant association was observed between SREBF‑1 rs8066560 polymorphism and the risk of MetS.

Conclusions: We conclude that the ‑1099G > A variant on SREBF‑1 gene associated with serum lipid profiles, however, it may not be a major risk factor for the MetS in Iranian children and

Keywords: Children and adolescents, metabolic syndrome, miR‑33b, polymorphism, sterol regulatory element‑binding transcription factor 1

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