A study of leptin and its gene 2548 G/A Rs7799039 single-nucleotide polymorphisms in Egyptian children: A single-center experience.

Background/objectives: The pathophysiology of obesity is multifactorial, including genetic and environmental factors. Previous studies had highlighted the association of the leptin gene/receptor with obesity. We aimed to study the leptin gene rs7799039 single nucleotide polymorphism (SNP) in children, and its association with the children's characteristics.

Methods: A cross-sectional analytic study that included 143 children with obesity (cases) and a comparable group of 86 lean children as controls. The anthropometric measures, blood pressure, and biochemical testing were done for all participants. The real-time polymerase chain reaction was used to detect rs7799039 SNP variant alleles and ELISA for leptin level assessment.

Results: The distribution of rs7799039 SNPs genotypes GG/GA/AA was comparable between both groups. Testing children regardless of their body mass index showed that the abnormalities in blood pressure, lipids values, insulin resistance, and hepatic insulin sensitivity were significantly associated with increased leptin levels. Among cases, the abnormal metabolic status was associated with higher leptin levels.

Conclusions: The genotype' distribution of leptin gene rs7799039 SNP was similar in both children with obesity and those with normal-weight. The high blood pressure, abnormal lipid profile, and metabolic disturbances, were significantly associated with higher leptin levels and not with leptin gene rs7799039 SNP.