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Title of Journal: Endocrine

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Abbravation: Endocrine

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Springer US

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DOI

10.1007/bf00363785

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1559-0100

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The exon 3 polymorphism of the growth hormone rece

Authors: Felipe Albuquerque Marques Túlio Cesar Lins Ricardo Moreno Lima Rômulo Maia Carlos Fonseca Nanci Maria de França Ricardo Jacó de Oliveira Maria Teresinha de Oliveira Cardoso Rinaldo Wellerson Pereira Robert Pogue
Publish Date: 2013/06/28
Volume: 45, Issue: 3, Pages: 487-496
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Abstract

The purpose of this study was to investigate the association between the GHR exon 3 fl/d3 polymorphism and body composition traits in Brazilian cohorts of normal postmenarche adolescent girls and in postmenopausal women with and without osteoporosis First multiplex PCR and quantitative PCR TaqMan were used with 105 DNA samples from the general Brazilian population to validate the SNP rs6873545 as a surrogate marker for the GHR polymorphism Subsequently genotyping was carried out to evaluate associations for this polymorphism in 136 postmenarche adolescents and 175 postmenopausal women who were evaluated for body composition traits such as bone mineral density and fatfree mass Statistical analysis used an independent sample t test oneway ANOVA test and post hoc Tukey HSD test Significant values were assumed by p  005 Genotyping indicated complete linkage disequilibrium between the GHR polymorphism and the SNP alleles r 2 = 10 Adolescents and healthy postmenopausal women showed no genotype associations for body composition traits or osteoporosis However a lower total body bone mineral density was observed in fl/fl postmenopausal women with osteoporosis p = 00004 These results suggest that the SNP rs6873545 can be used as a surrogate for the GHR fl/d3 polymorphism due to linkage disequilibrium in the Brazilian population and that the fl/fl genotype is a severity–related risk factor for osteoporosis but did not appear to be associated with disease statusThis work was supported in part by the Conselho Nacional de Desenvolvimento Científico e Tecnológico CNPqMCT/CNPq02/2006Universal475438/20060 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior CAPES and by the Fundação de Apoio à Pesquisa do Distrito Federal FAPDF

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