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https://hdl.handle.net/2440/71418
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Type: | Journal article |
Title: | Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in Southern Italy |
Author: | Cizza, G. Bernardi, L. Smirne, N. Maletta, R. Tomaino, C. Costanzo, A. Gallo, M. Lewis, J. Geracitano, S. Grasso, M. Potenza, G. Monteleone, C. Brancati, G. Ho, J. Torpy, D. Bruni, A. |
Citation: | Journal of Clinical Endocrinology and Metabolism, 2011; 96(10):E1684-E1693 |
Publisher: | Endocrine Society |
Issue Date: | 2011 |
ISSN: | 0021-972X 1945-7197 |
Statement of Responsibility: | Giovanni Cizza, Livia Bernardi, Nicoletta Smirne, Raffaele Maletta, Carmine Tomaino, Angela Costanzo, Maura Gallo, John G. Lewis, Silvana Geracitano, Maria Beatrice Grasso, Giuseppe Potenza, Cosimo Monteleone, Giacomino Brancati, Jui T. Ho, David J. Torpy, and Amalia C. Bruni |
Abstract: | Context: Corticosteroid-binding globulin (CBG) is the binding protein for cortisol. Rare kindreds with CBG mutations reducing CBG levels or altering binding affinity have been described, along with clinical manifestations encompassing fatigue, chronic pain, and hypotension. The largest kindred, exhibiting two mutations (null and Lyon) were Australian immigrants from Italy. Objective: Our objective was to determine the prevalence of the null/Lyon mutations in the village where the original null/Lyon family emigrated and compare subjects with and without CBG mutations, without previous knowledge of their mutation status. Design, Setting, and Participants: We conducted a survey field study that included 495 adult residents. Main Outcomes: We assessed clinical history, CBG mutation analysis, plasma CBG, salivary cortisol, body mass index, waist circumference, blood pressure, and the Krupp fatigue scale. Results: Eighteen of 495 participants (3.6%, seven males and 11 females) had one of two function-altering CBG mutations. All were heterozygous for the null (n = 6) or Lyon mutations (n = 12). Of 12 Lyon participants (four males and eight females), eight (two males and six females) had chronic widespread pain and five osteoarthritis with associated pain (one male and four females). Of six null participants (three males and three females), three (one male and two females) had chronic pain and four osteoarthritis with associated pain (two males and two females). Conclusions: A high combined prevalence (3.6%) of these two CBG mutations was detected. The presence of either mutation conferred a propensity to chronic pain. In other communities, individuals with the same genetic background complain more of fatigue than pain, suggesting an environmental effect on the phenotype. These findings, combined with animal CBG gene knockout and human CBG single-nucleotide polymorphism haplotype studies, suggest that CBG influences the endocrine and neurobehavioral response to stress, including the development of pain/fatigue syndromes. |
Keywords: | Saliva Humans Pain Chronic Disease Hydrocortisone Transcortin DNA Pedigree Emigration and Immigration Muscle Fatigue Mutation Quality of Life Adolescent Adult Aged Aged, 80 and over Middle Aged Australia Italy Female Male Adrenocorticotropic Hormone Young Adult |
Rights: | Copyright © 2011 by The Endocrine Society |
DOI: | 10.1210/jc.2011-1321 |
Published version: | http://dx.doi.org/10.1210/jc.2011-1321 |
Appears in Collections: | Aurora harvest Medicine publications |
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