Lack of mutations in the leptin receptor gene in severely obese children Ausência de mutação no gene receptor de leptina em crianças gravemente obesas

Abstract

To analyze the LEPR gene in obese children and to investigate the associations be- tween molecular findings and anthropometric and metabolic features. Subjects and methods: Thirty-two patients were evaluated regarding anthropometric characteristics, blood pressure, heart rate, serum glucose, insulin, leptin levels, and lipid profile. The molecular study consisted of the amplification and automatic sequencing of the coding region of LEPR in order to inves- tigate new mutations. Results: We identified a high prevalence of metabolic disorders: impai- red fasting glucose in 12.5% of the patients, elevated HOMA-IR in 85.7%, low HDL-cholesterol levels in 46.9%, high triglyceride levels in 40.6%, and hypertension in 58.6% of the patients. The molecular study identified 6 already described allelic variants: rs1137100 (exon-2), rs1137101 (exon-4), rs1805134 (exon-7), rs8179183 (exon-12), rs1805096 (exon-18), and the deletion/in- sertion of the pentanucleotide CTTTA at 3’untranslated region. Conclusions: The frequency of alleles observed in this cohort is similar to that described in the literature, and was not correla- ted with any clinical feature. The molecular findings in the analysis of the LEPR did not seem to be implicated in the etiology of obesity in these patients.