Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene.
J Pediatr Endocrinol Metab
; 35(5): 657-662, 2022 May 25.
Article
in En
| MEDLINE
| ID: mdl-35355494
ABSTRACT
OBJECTIVES:
Genetic factors have a key role in childhood obesity with higher rates in children than adults. Among the monogenic types of non-syndromic obesity, melanocortin-4 receptor (MC4R) deficiency is the most frequent cause. Beside pathogenic variants, single-nucleotide polymorphisms in MC4R gene are also associated with lower energy expenditure. The aim of this study was to estimate the frequency of MC4R variants and polymorphisms in a cohort of Turkish children and adolescents with severe early-onset obesity, and to understand the clinical features of patients.METHODS:
Patients, 1-17 years of age, with the onset of obesity before 10 years of age and a body mass index (BMI) standard deviation score (SDS) of >2.3, and who had a family history of early-onset obesity in at least one of their first-degree relatives were included in the study. Beside routine blood tests genetic analyses for MC4R gene were performed.RESULTS:
Analyses of MC4R revealed previously known variations in three (3.5%) patients, and pathogenic polymorphisms related with obesity in four (4.7%) patients. BMI SDS values were between 2.8 and 5.5 SDS in the pathogenic variant carrier group, and 2.8-4.9 SDS in the polymorphism group. Mean BMI SDS in variant-negative group was 3.4 ± 0.82.CONCLUSIONS:
Investigation of the MC4R in individuals with early-onset obesity and presence of obesity first-degree relatives is important. Hypertension is a rare comorbidity compared to other causes. Contrary to studies reporting that insulin resistance was absent or very rare, we found it as a frequent finding in both pathogenic variants and polymorphisms of MC4R.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Receptor, Melanocortin, Type 4
/
Pediatric Obesity
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Child
/
Humans
Language:
En
Journal:
J Pediatr Endocrinol Metab
Journal subject:
ENDOCRINOLOGIA
/
PEDIATRIA
Year:
2022
Document type:
Article
Affiliation country:
Turquía