PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Wermter, A.K.* ; Reichwald, K.* ; Buch, T.* ; Geller, F.* ; Platzer, C.* ; Huse, K.* ; Hess, C.* ; Remschmidt, H.* ; Gudermann, T.* ; Preibisch, G.* ; Siegfried, W.* ; Goldschmidt, H.P.* ; Li, W.D.* ; Price, R.A.* ; Biebermann, H.* ; Krude, H.* ; Vollmert, C. ; Wichmann, H.-E. ; Illig, T. ; Sørensen, T.I.* ; Astrup, A.* ; Larsen, L.H.* ; Pedersen, O.* ; Eberle, D.* ; Clément, K.* ; Blundell, J.* ; Wabitsch, M.* ; Schäfer, H.* ; Platzer, M.* ; Hinney, A.* ; Hebebrand, J.*

Mutation analysis of the MCHR1 gene in human obesity.

Eur. J. Endocrinol. 152, 851-862 (2005)
Verlagsversion DOI
Closed
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Objective: The importance of the melanin-concentrating hormone (MCH) system for regulation of energy homeostasis and body weight has been demonstrated in rodents. We analysed the human MCH receptor 1 gene (MCHR1) with respect to human obesity. Design: This consisted of genomic screening of 13.4 kb encompassing the MCHR1 in extremely obese German children and adolescents and association analyses for two coding single nucleotide polymorphisms (SNPs). To confirm initial positive association results, additional association studies and transmission disequilibrium tests in further German, Danish, French and American samples were conducted. Selected SNPs were investigated using functional in vitro studies and reporter gene assays. Methods: Single-stranded conformation polymorphism analysis, re-sequencing, PCR-restriction fragment length polymorphism analyses, tetra-primer amplification refractory mutation systems, matrix-assisted laser desorption/ionization time of flight mass spectrometry and reporter gene assays were carried out as well as measuring inositol phosphate formation, inhibition of cAMP formation and activation of p42/44 MAP kinase. Results: We identified 11 infrequent variations and two SNPs in the MCHR1 coding sequence and 18 SNPs (eight novel) in the flanking sequence. Association and transmission disequilibrium with obesity were detected for several SNPs in independent study groups of German obese children and adolescents and controls. In two German samples, encompassing 4056 and 295 individuals, trends towards association with obesity were detected. Findings in a second epidemiological German sample and in Danish, French and American samples were negative. Functional in vitro studies as well as reporter gene assays revealed no significant results. Conclusion: Our initial association of MCHR1 alleles/haplotype detected might be related to juvenile-onset obesity, conditional on a particular genetic and/or environmental background. Alternatively, we could not exclude the possibility that the initially detected association represented a false positive finding. © 2005 Society of the European Journal of Endocrinology.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
3.140
1.502
20
31
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Sprache englisch
Veröffentlichungsjahr 2005
HGF-Berichtsjahr 0
ISSN (print) / ISBN 0804-4643
e-ISSN 1479-683X
Zeitschrift European Journal of Endocrinology
Quellenangaben Band: 152, Heft: 6, Seiten: 851-862 Artikelnummer: , Supplement: ,
Verlag BioScientifica
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)
POF Topic(s) 30503 - Chronic Diseases of the Lung and Allergies
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503900-003
DOI 10.1530/eje.1.01917
Scopus ID 21344452109
Erfassungsdatum 2005-10-17
[➜Korrektur melden]