| Systematic mutation screening of the estrogen receptor beta gene in probands of different weight extremes: identification of several genetic variants. | |
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MedLine Citation:
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PMID: 9851804 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Estrogens are known to have an inhibitory effect on food intake in rodents and primates. Decreased estrogen levels that are found for instance in menopausal woman and in ovarectomized rodents result in body weight gain. Estrogen can act both in the periphery and in the central nervous system via at least two different estrogen receptors (alpha and beta). We systematically screened the coding region and part of the 5' and 3'regions of the estrogen receptor beta gene (ER beta) in 96 extremely obese children and adolescents, 50 patients with anorexia nervosa (AN), 28 patients with bulimia nervosa (BN), and 25 healthy underweight individuals. We detected five different sequence variants in the ER beta: a) A 21 bp deletion (codons 238 to 244) was detected in two obese probands and an underweight individual. b) An 846G-->A transition leading to a nonconservative amino acid substitution (G-250-S) was found in two obese male probands. Both a) and b) were located within the flexible hinge region between DNA and ligand binding domain. c) For a 1082G-->A polymorphism we found suggestive evidence for an association between the more common 1082G-allele and anorexia nervosa (nominal p=0.04). d) One silent mutation (1421T-->C) was found solely in two obese probands. e) A common variant is located in the 3' nontranslated region at position 1730(A-->G). We did not detect association of this polymorphism to any of the analyzed phenotypes. We conclude that the ER beta harbors several different mutations and polymorphisms, none of which can readily be associated with the phenotypes under study. |
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Authors:
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K Rosenkranz; A Hinney; A Ziegler; H Hermann; M Fichter; H Mayer; W Siegfried; J K Young; H Remschmidt; J Hebebrand |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 83 ISSN: 0021-972X ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 1998 Dec |
Date Detail:
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Created Date: 1999-01-11 Completed Date: 1999-01-11 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 4524-7 Citation Subset: AIM; IM |
Affiliation:
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Department of Child and Adolescent Psychiatry, University of Marburg, FRG. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Anorexia Nervosa / genetics Body Weight / physiology* Bulimia / genetics Child Estrogen Receptor beta Female Genetic Testing* Genetic Variation / genetics* Humans Male Mutation / genetics* Obesity / genetics Receptors, Estrogen / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Estrogen Receptor beta; 0/Receptors, Estrogen |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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