Lack of mutations in the leptin receptor gene in severely obese children.
OBJECTIVE
To analyze the LEPR gene in obese children and to investigate the associations between molecular findings and anthropometric and metabolic features.


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 investigate new mutations.


RESULTS
We identified a high prevalence of metabolic disorders: impaired 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/insertion 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 correlated 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.
Liga de Obesidade Infantil, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil.
Natasha Favoretto
NF
Dias
Ariana Ester
AE
Fernandes
Maria Edna de
ME
Melo
Heidi Lui
HL
Reinhardt
Cintia
C
Cercato
Sandra Mara Ferreira
SM
Villares
Alfredo
A
Halpern
Marcio C
MC
Mancini
D017668:Age of Onset; D001786:Blood Glucose / Q000032:analysis*; D015992:Body Mass Index; D001938:Brazil; D002648:Child; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007328:Insulin / Q000097:blood*; D020738:Leptin / Q000097:blood*; D008297:Male; D009154:Mutation; D009765:Obesity / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D054411:Receptors, Leptin / Q000235:genetics*
D001786:Blood Glucose; D007328:Insulin; D020738:Leptin; D054411:Receptors, Leptin