Titre du document / Document title

Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children

Auteur(s) / Author(s)

BECKERS S. ⁽¹⁾ ; MERTENS I. ⁽²⁾ ; PEETERS A. ⁽¹⁾ ; VAN GAAL L. ⁽²⁾ ; VAN HUL W. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Department of Medical Genetics, University and University Hospital Antwerp, Wilrijk, BELGIQUE
⁽²⁾ Department of Dialectology, Metabolism and Clinical Nutrition, University Hospital Antwerp, Edegem, BELGIQUE

Résumé / Abstract

Objective: To investigate whether pathogenic melanocortin-4 receptor (MC4R) mutations are a common cause of obesity in Belgium. Design: Cross-sectional mutation analysis. Subjects: In total, 95 morbidly obese adults (mean age 44.02±11.35 years; mean BMI 47.87+4.17kg/m²) and 123 obese children and adolescents were screened for mutations in MC4R (mean age 16.56±2.58 years; BMI > 95th percentile for age and sex; mean % overweight 170.86 ±23.63). Measurements: A series of anthropometric (e.g. weight, height, waist, hip), biochemical and clinical measurements were performed on all subjects. The entire coding region of MC4R was screened using DHPLC, a highly sensitive and specific method for mutation analysis. Direct sequencing was performed when the chromatogram deviated from the WT pattern. Results: Mutation screening of a cohort of Belgian obese adults and children did not detect any pathogenic mutations as only the previously described polymorphisms Val1 0311e, Thr112Met and lle251 Leu were detected. Conclusion: Pathogenic mutations in MC4R are not a common cause of obesity in a Belgian population of obese adults, children and adolescents.

Revue / Journal Title

International journal of obesity   ISSN 0307-0565   CODEN IJOBDP 

Source / Source

2006, vol. 30, n^o2, pp. 221-225 [5 page(s) (article)] (35 ref.)

Langue / Language

Anglais

Editeur / Publisher

Nature Publishing, Basingstoke, ROYAUME-UNI  (1977) (Revue)

Mots-clés anglais / English Keywords

Nutrition disorder ; Europe ; Human ; Nutritional status ; Belgium ; Genotype ; Genetic variability ; Polymorphism ; Child ; Adult ; Cohort study ; Genetics ; Mutation ; Melanocortin receptor ; Medical screening ; Obesity ;

Mots-clés français / French Keywords

Trouble nutrition ; Europe ; Homme ; Récepteur mélanocortine 4 ; Etat nutritionnel ; Belgique ; Génotype ; Variabilité génétique ; Polymorphisme ; Enfant ; Adulte ; Etude cohorte ; Génétique ; Mutation ; Récepteur mélanocortine ; Dépistage ; Obésité ;

Mots-clés espagnols / Spanish Keywords

Trastorno nutricíon ; Europa ; Hombre ; Estado nutricional ; Belgica ; Genotipo ; Variabilidad genética ; Polimorfismo ; Niño ; Adulto ; Estudio cohorte ; Genética ; Mutación ; Receptor melanocortina ; Descubrimiento ; Obesidad ;

Mots-clés d'auteur / Author Keywords

melanocortin-4 receptor ; mutation analysis ; polymorphism ; genetics ;

Localisation / Location

INIST-CNRS, Cote INIST : 18243, 35400013302659.0030