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Lack of Glucocorticoid Receptor Hypersensitivity‐Related Polymorphisms in an Undergraduate Population
Author(s) -
Leibovitz Evan,
Cohen Brian
Publication year - 2015
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.29.1_supplement.710.19
Subject(s) - glucocorticoid receptor , endocrinology , population , medicine , glucocorticoid , genotype , allele , buccal swab , biology , genetics , gene , environmental health
Many phenotypic similarities exist between Cushing's Syndrome (CS) and Metabolic Syndrome (MetS). As the main diagnostic criterion for CS is elevation of the steroid hormone cortisol, a glucocorticoid, we hypothesize that MetS, in some cases, represents a CS like state in the absence of elevated cortisol. One potential mechanism by which this could occur is elevated sensitivity to glucocorticoids as a result of mutation of the glucocorticoid receptor (GR). Two particular polymorphisms of the GR that correlate with hypersensitivity to cortisol are the asparagine to serine mutation at the 363 rd codon of the receptor gene (N363S) as well as a mutation at the BclI site on the second intron of the receptor gene. The objective of this study was to investigate the presence of these two polymorphisms of the human glucocorticoid receptor that are associated with hypersensitivity to cortisol in a population of college students. Student DNA was isolated using a chelex isolation method from buccal (cheek) cells. A novel set of allele specific primers were designed to detect the two hypersensitivity‐causing polymorphisms. Using polymerase chain reaction (PCR), in a population of white, non‐obese, college aged students neither heterozygotes nor mutant homozygotes of the two GR alleles were detectable. Our finding of a prevalence of zero is not surprising as our population of non‐obese students is unlikely to have cortisol hypersensitivity. This is evident by their normal range BMIs and lack of MetS and CS like symptoms. However, the population did allow us to test the specificity of the PCR method we developed. Future research will investigate the prevalence of the polymorphisms in morbidly obese adults seeking bariatric surgery and it is expected that the mutant alleles will be detected in this population.