9β Polymorphism of the Glucocorticoid Receptor Gene Appears to Have Limited Impact in Patients with Addison’s Disease

 

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dc.contributor.author Ross, Ian Louis en_ZA
dc.contributor.author Dandara, Collet en_ZA
dc.contributor.author Swart, Marelize en_ZA
dc.contributor.author Lacerda, Miguel en_ZA
dc.contributor.author Schatz, Desmond en_ZA
dc.contributor.author Blom, Dirk Jacobus en_ZA
dc.date.accessioned 2015-11-18T07:05:54Z
dc.date.available 2015-11-18T07:05:54Z
dc.date.issued 2014 en_ZA
dc.identifier.citation Ross, I. L., Dandara, C., Swart, M., Lacerda, M., Schatz, D., & Blom, D. J. (2014). 9β Polymorphism of the Glucocorticoid Receptor Gene Appears to Have Limited Impact in Patients with Addison’s Disease. PloS one, 9(1). doi:10.1371/journal.pone.0086350 en_ZA
dc.identifier.uri http://hdl.handle.net/11427/15116
dc.identifier.uri http://dx.doi.org/10.1371/journal.pone.0086350
dc.description.abstract BACKGROUND: Addison’s disease (AD) has been associated with an increased risk of cardiovascular disease. Glucocorticoid receptor polymorphisms that alter glucocorticoid sensitivity may influence metabolic and cardiovascular risk factors in patients with AD. The 9β polymorphism of the glucocorticoid receptor gene is associated with relative glucocorticoid resistance and has been reported to increase the risk of myocardial infarction in the elderly. We explored the impact of this polymorphism in patients with AD. Materials and METHODS: 147 patients with AD and 147 age, gender and ethnicity matched healthy controls were recruited. Blood was taken in a non-fasted state for plasma lipid determination, measurement of cardiovascular risk factors and DNA extraction. RESULTS: Genotype data for the 9β polymorphism was available for 139 patients and 146 controls. AD patients had a more atherogenic lipid profile characterized by an increase in the prevalence of small dense LDL (p = 0.003), increased triglycerides (p = 0.002), reduced HDLC (p<0.001) an elevated highly sensitive C-reactive protein (p = 0.01), compared with controls. The 9β polymorphism (at least one G allele) was found in 28% of patients and controls respectively. After adjusting for age, gender, ethnicity, BMI and hydrocortisone dose per metre square of body surface area in patients, there were no significant metabolic associations with this polymorphism and hydrocortisone doses were not higher in patients with the polymorphism. CONCLUSIONS: This study did not identify any associations between the 9β polymorphism and cardiovascular risk factors or hydrocortisone dose and determination of this polymorphism is therefore unlikely to be of clinical benefit in the management of patients with AD. en_ZA
dc.language.iso eng en_ZA
dc.publisher Public Library of Science en_ZA
dc.rights This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. en_ZA
dc.rights.uri http://creativecommons.org/licenses/by/4.0 en_ZA
dc.source PLoS One en_ZA
dc.source.uri http://journals.plos.org/plosone en_ZA
dc.subject.other Hydrocortisone en_ZA
dc.subject.other Ethnic epidemiology en_ZA
dc.subject.other Polymerase chain reaction en_ZA
dc.subject.other Cardiovascular diseases en_ZA
dc.subject.other Lipids en_ZA
dc.subject.other Variant genotypes en_ZA
dc.subject.other DNA extraction en_ZA
dc.subject.other Elderly en_ZA
dc.title 9β Polymorphism of the Glucocorticoid Receptor Gene Appears to Have Limited Impact in Patients with Addison’s Disease en_ZA
dc.type Journal Article en_ZA
dc.rights.holder © 2014 Ross et al en_ZA
uct.type.publication Research en_ZA
uct.type.resource Article en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Division of Endocrinology and Diabetology en_ZA
uct.type.filetype Text
uct.type.filetype Image


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This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Except where otherwise noted, this item's license is described as This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.