TY - JOUR
T1 - Screening for variability in the ciliary neurotrophic factor (CNTF) gene: No evidence for association with human obesity
AU - Münzberg, H.
AU - Tafel, J.
AU - Büsing, B.
AU - Hinney, A.
AU - Ziegler, A.
AU - Mayer, H.
AU - Siegfried, W.
AU - Matthaei, S.
AU - Greten, H.
AU - Hebebrand, J.
AU - Hamann, A.
PY - 1998
Y1 - 1998
N2 - Systemic administration of the neurocytokine ciliary neurotrophic factor (CNTF) normalizes the obese phenotype of ob/ob and db/db mice. CNTF exerts its multiple effects through a receptor complex whose sequence, localization in hypothalamic nuclei and mode of signal transduction share remarkable similarities with the leptin receptor. In the human CNTF gene, a mutation in the first intron creates a new splice acceptor site, with the resulting mRNA coding for an aberrant protein. Given the potential of CNTF to influence energy homeostasis, this study was undertaken to determine whether variability in the CNTF gene is associated with human obesity. The previously described mutation was found in 30.3% of obese children and adolescents, 7 of which were homozygous (allele frequency 0.163). 29.5% of lean subjects carried the mutation, none of which were homozygous (allele frequency 0.148; corrected p = 1 compared to obese). No further mutations were detected by single strand conformational polymorphism (SSCP) analysis. In conclusion, variants in the CNTF gene are unlikely to be associated with the development of early-onset obesity.
AB - Systemic administration of the neurocytokine ciliary neurotrophic factor (CNTF) normalizes the obese phenotype of ob/ob and db/db mice. CNTF exerts its multiple effects through a receptor complex whose sequence, localization in hypothalamic nuclei and mode of signal transduction share remarkable similarities with the leptin receptor. In the human CNTF gene, a mutation in the first intron creates a new splice acceptor site, with the resulting mRNA coding for an aberrant protein. Given the potential of CNTF to influence energy homeostasis, this study was undertaken to determine whether variability in the CNTF gene is associated with human obesity. The previously described mutation was found in 30.3% of obese children and adolescents, 7 of which were homozygous (allele frequency 0.163). 29.5% of lean subjects carried the mutation, none of which were homozygous (allele frequency 0.148; corrected p = 1 compared to obese). No further mutations were detected by single strand conformational polymorphism (SSCP) analysis. In conclusion, variants in the CNTF gene are unlikely to be associated with the development of early-onset obesity.
UR - http://www.scopus.com/inward/record.url?scp=7144261726&partnerID=8YFLogxK
U2 - 10.1055/s-0029-1211960
DO - 10.1055/s-0029-1211960
M3 - Journal articles
C2 - 9628240
AN - SCOPUS:7144261726
SN - 0947-7349
VL - 106
SP - 108
EP - 112
JO - Experimental and Clinical Endocrinology and Diabetes
JF - Experimental and Clinical Endocrinology and Diabetes
IS - 2
ER -