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Study of obesity associated proopiomelanocortin gene polymorphism: Relation to metabolic profile and eating habits in a sample of obese Egyptian children and adolescents

Farida El-Baz Mohamed
Rasha T. Hamza
Nermine H. Amr
Azza M. Youssef
Tarek M. Kamal
Rana A. Mahmoud


Background: Melanocortinergic system represents a known system involved in the central regulation of body weight with the central proopiomelanocortin (POMC) neurons forming a potent anorexigenic network. Polymorphisms in the POMC gene locus are associated with obesity phenotypes.

Aim: To assess the contribution of the POMC gene 9-bp insertional polymorphism in the susceptibility to obesity and its relation to body mass index (BMI) and adiposity-related co-morbidities in obese children and adolescents; as well as binge eating behavior.

Patients and methods: Fifty obese children and adolescents with simple obesity were screened for Binge Eating Disorder (BED) by The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), they were compared to 50 age, sex and pubertal stage-matched non obese controls. Anthropometric measurements, blood pressure, abdominal ultrasound for fatty liver, measurement of fasting lipid profile, fasting insulin, fasting blood glucose and assessment of POMC gene 9-bp insertional polymorphism were done.

Results: Obese patients had significantly higher anthropometric measurements, blood pressure percentiles, fasting glucose, fasting insulin, homeostasis model assessment for insulin resistance (HOMA-IR) and fasting lipid profiles, and higher frequency of occurrence of non alcoholic fatty liver disease and BED. Allelic frequencies of POMC gene 9 bp insertional polymorphism were comparable in patients and controls (p= 0.956). Fasting insulin levels were significantly higher in the heterozygous cases having the polymorphism than in wild homozygous cases; whereas no difference was observed among the controls.

Conclusion: This polymorphism was associated with higher fasting insulin levels in the obese patients only. These findings support the hypothesis that the melanocortin pathway may modulate  glucose metabolism in obese subjects indicating a possible gene-environment interaction. POMC variant may be involved in the natural history of polygenic obesity, contributing to the link between type 2 diabetes and obesity.

Keywords: Childhood obesity; POMC gene; Metabolic syndrome

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eISSN: 1110-8630