Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation

Citation
F. Oeffner et al., Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation, INT J OBES, 25(6), 2001, pp. 767-769
Citations number
10
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Endocrynology, Metabolism & Nutrition","Endocrinology, Nutrition & Metabolism
Journal title
INTERNATIONAL JOURNAL OF OBESITY
ISSN journal
0307-0565 → ACNP
Volume
25
Issue
6
Year of publication
2001
Pages
767 - 769
Database
ISI
SICI code
0307-0565(200106)25:6<767:SSFMIT>2.0.ZU;2-7
Abstract
BACKGROUND: NDN, which codes for the human necdin protein, is a candidate g ene for Prader-Willi syndrome (PWS). One feature of this neurogenetic disor der is hyperphagia resulting in extreme obesity observed later in developme nt. OBJECTIVE AND DESIGN: In this study we have used single-strand conformation polymorphism (SSCP) analysis to identify sequence variants at the human ne cdin gene. Furthermore we tested whether these variants were associated wit h obesity in extremely obese German children and adolescents. RESULTS: Two gene variants could be identified: a g.1352T -->C polymorphism in the putative promotor region and a silent g.2311C -->T polymorphism in the coding region. Genotype and allele frequency distribution of both of th e polymorphisms were not significantly different between lower and higher b ody mass index (BMI) subjects. CONCLUSIONS: Hence, it is unlikely that these polymorphisms play a major ro le in the emergence of juvenile onset human obesity.