What is the Origin of BclI Polymorphism?

The term combines the restriction enzyme's name, BclI, which identifies the specific DNA sequence variation, with polymorphism, which is derived from Greek meaning "many forms." Its clinical relevance stems from molecular endocrinology research investigating genetic determinants of stress hormone sensitivity. This SNP's discovery facilitated studies linking genetic variability in the glucocorticoid receptor to endocrine-related clinical phenotypes.

What is the Mechanism of BclI Polymorphism?

This particular polymorphism, often found in intron 2 of the NR3C1 gene, does not directly alter the protein's amino acid sequence but may affect gene transcription or messenger RNA stability. The resulting subtle changes in glucocorticoid receptor expression levels or splicing patterns can influence the cellular response to circulating cortisol. Altered receptor density or affinity can modify the effectiveness of the HPA axis negative feedback loop, thereby contributing to inter-individual differences in stress response and metabolic profiles.

BclI Polymorphism ∞ Area

BclI Polymorphism

Meaning

The BclI Polymorphism refers to a specific single nucleotide polymorphism (SNP) located within the gene encoding the human glucocorticoid receptor (GR), officially known as the NR3C1 gene. This genetic variation involves a change in the DNA sequence recognizable by the restriction enzyme BclI. It is a common genetic marker studied for its potential influence on the expression, structure, or function of the glucocorticoid receptor. Individuals possessing this polymorphism may exhibit altered sensitivity to cortisol and other glucocorticoids.