title: Polymorphisms in the growth hormone receptor: a case-control study in breast cancer.
abstract: The human growth hormone receptor (GHR) mediates the effects of growth hormone (GH1), starting a signalling cascade that is involved in the regulation of proliferation, differentiation and apoptosis. Recently, an isoform of the GHR gene lacking exon 3 (GHRd3) was associated with accelerated responsiveness to growth hormone. In this study, we investigated the association of the GHRd3 polymorphism with breast cancer risk and performed a haplotype analysis with 3 additional single nucleotide polymorphisms (SNPs) (Gly186Gly, Cys440Phe and Ile544Leu) in the GHR coding region in a Polish cohort. We did not observe any effect of the 4 polymorphisms on breast cancer risk. Neither did the 3 most common haplotypes influence breast cancer risk. However, a rare haplotype (dGGC), containing the GHRd3 allele, was associated with a decreased breast cancer risk (OR 0.30, 95% CI 0.11-0.80).
authors.affiliation: Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. K.Wagner@dkfz.de
authors.forename: Kerstin
authors.initials: K
authors.lastname: Wagner
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
authors.forename: Ewa
authors.initials: E
authors.lastname: Grzybowska
authors.forename: Justo Lorenzo
authors.initials: JL
authors.lastname: Bermejo
authors.forename: Dorota
authors.initials: D
authors.lastname: Butkiewicz
authors.forename: Jolanta
authors.initials: J
authors.lastname: Pamula
authors.forename: Wioletta
authors.initials: W
authors.lastname: Pekala
authors.forename: Asta
authors.initials: A
authors.lastname: Försti
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D017209:Apoptosis; D001943:Breast Neoplasms / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D049109:Cell Proliferation; D005260:Female; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms
chemical_list: D002352:Carrier Proteins; D020033:Protein Isoforms; C051815:somatotropin-binding protein