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
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
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.