Due to cortisol’s wide ranging effects, studies have shown NR3C1 polymorphisms are associated with metabolic syndrome, depression disorders, immune related disorders, as well as stress responsiveness along the HPA axis (2,3). Schatzberg et al demonstrated that several SNPs within the NR3C1 gene associated with elevated cortisol levels and the Bcl1 polymorphism rs41423247 SNP contributed to elevated nocturnal cortisol levels (4). Polymorphisms within NR3C1 have also been linked to altered levels of cortisol responsiveness in persons administered laboratory-based stress tests (5).
Szczepankiewicz et al 2011, discovered an association between SNP rs6198 and an increased risk for major depressive disorder (MDD) and bipolar disorder (BD). It was shown that the heterozygous genotype for rs6198 was linked to the susceptibility of MDD. This polymorphism was also shown to influence the predominance of depressive episodes versus manic/hypomanic episodes in individuals with BD. The main findings of this study support associations between polymorphisms in NR3C1 and MDD in addition to the predominance of depressive episodes in BD patients (6). For more details on NR3C1 visit SNPedia here.
When interpreting data from your current study or planning for the future, consider the polymorphisms that influence stress response. For a complete list of SNPs available for research, we recommend contacting one of our experts for guidance on the most relevant selections for your research.
|Genomic DNA, purified using silica based membrane columns is analyzed by TaqMan® SNP Genotyping Assays run on the 7900HT real time PCR system
Yield: 2-5 ug genomic DNA
Collect Saliva Samples
DNA SALIVA COLLECTION CONSIDERATIONS
Better results begin with better saliva collection. This collection protocol features general considerations to maximize salivary DNA analysis. Use this collection protocol to plan your collection methodology and sampling schemes.
Test Saliva Samples
|Order Code (lab):||5811 (SNP Genotyping)|
|Transport Requirements:||Ship on Dry Ice|
The validated method used by Salimetrics is proprietary and not available in assay kit form at this time.
References & NR3C1 Related Research
- Turner, J. and Muller, C (2005). Structure of the glucocorticoid receptor (NR3C1) gene 5’ untranslated region: identification, and tissue distribution of multiple new human exon 1. Journal of Molecular Endocrinology. 35(2), 283-292.
- Teran-Garcia et al. (2007). Genetics of the metabolic syndrome. Applied Physiology, Nutrition, and Metabolism. 32(1), 89-114.
- McGowan, P. et al. (2009). Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse. Nature Neuroscience. 12(3), 342–348.
- Schatzberg, A.F. et al. (2013). HPA axis genetic variation, cortisol and psychosis in major depression. Molecular Psychiatry. 19(2), 220-227.
- DeRijk, R. et al. (2007). Corticosteroid receptor polymorphisms: Determinants of vulnerability and resilience. European Journal of Pharmacology. 583(2-3), 303-311.
- Szczepankiewicz, A. et al. (2011). Glucocorticoid receptor polymorphism is associated with major depression and predominance of depression in the course of bipolar disorder. Journal of Affective Disorders. 134(1-3), 138-144.