The N363S polymorphism in the glucocorticoid receptor gene: effects on visceral fat assessed by abdominal computed tomography

Cercato, Cíntia; Halpern, Alfredo; Frazzatto, Eliana; Guazzelli, Izabel Cristina; Villares, S M

doi:10.1590/s0004-27302009000200021

Cited by 4 publications

(1 citation statement)

References 26 publications

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“…Cercato et al 17 studied the N363S polymorphism in the glucocorticoid receptor gene and concluded that its prevalence is low in the Brazilian population; though rare, its presence may contribute to the worsening of the individuals' metabolic profiles. Madeira et al 18 described the impact of obesity on metabolic syndrome components and adipokines in prepubertal children, providing evidence of the influence of obesity on metabolic syndrome components and on adipokine levels in prepubertal children, which in turn indicates that these components may contribute to the onset of cardiovascular diseases.…”

Section: Methodsmentioning

confidence: 99%

Metabolic and infectious pathologies in Brazilian medical literature: a review

Rocha-e-Silva¹

2010

Clinics

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OBJECTIVE: This review of original reports on metabolic and infectious diseases that were recently published in Brazilian journals is designed to inform the readership of CLINICS about their content.METHODS: I conducted a search in PubMed for original research articles (clinical or basic research) recently published (2008)(2009) by Brazilian medical and biological periodicals. Papers on metabolic pathologies were retrieved by searching for appropriate keywords such as metabolic syndrome and obesity. Papers on infectious disease were obtained by entering 15 different keywords for the most commonly occurring pathologies. Review articles, editorials, letters to the editor, and case reports were manually excluded. Selected titles were then categorized into appropriate sub-categories. RESULTS:This search produced a total of 123 articles, which filtered down to 72 articles after eliminating editorials, review articles, letters to the Editor and case reports.

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Section: Methodsmentioning

confidence: 99%

Metabolic and infectious pathologies in Brazilian medical literature: a review

Rocha-e-Silva¹

2010

Clinics

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The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy

et al. 2013

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The survival rates in childhood acute lymphoid leukemia (ALL) have improved dramatically; however, patients still suffer from a variety of drug-related toxicities. Individualized therapy regimens promise the least toxic therapy regimen with the best hematologic outcome. Our aim was to investigate whether increased individual glucocorticoid sensitivity due to the N363S polymorphism of the glucocorticoid receptor increased susceptibility to steroid-related toxicities during ALL therapy. A total of 346 pediatric ALL patients were involved in the present study. N363S carrier status was investigated by allele-specific PCR. Clinical and laboratory signs of glucocorticoid-related toxicities, Day 8 prednisone response, and 5-year event-free survival were analyzed and compared retrospectively. Thirty-two of the 346 patients were heterozygous carriers (9.2 %). Hepatotoxicity (31.3 vs. 11.2 %, p = 0.004, carriers and non-carriers, respectively) and glucose metabolism abnormalities (18.8 vs. 3.8 %, p = 0.001, carriers and non-carriers, respectively) were significantly more frequent among carriers. There was no difference in the incidence of hypertension and encephalopathy/psychosis among carriers and non-carriers. Carriers were also more prone to have a combination of toxicities. All 363S carriers were good prednisone responders (100 %) and had significantly better 5-year event-free survival rates (93.1 vs. 71.86 %, p = 0.012), whereas among non-carriers there were more poor prednisone responders (8.28 %) and worse 5-year event-free survival rates. Patients with the N363S polymorphism in the glucocorticoid receptor are more prone to steroid-related toxicity during ALL therapy and should be monitored more closely. Patients with N363S polymorphism of the glucocorticoid receptor may be appropriate candidates for inclusion in the design of individualized therapies.

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