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CAG Repeat Polymorphism

Meaning

A CAG repeat polymorphism is a genetic variation defined by a differing number of cytosine-adenine-guanine trinucleotide repeats within the coding region of a gene, most notably the androgen receptor (AR) gene in endocrinology. This specific genetic sequence dictates the length of a polyglutamine tract within the resultant receptor protein. Clinically, the number of these repeats inversely correlates with the functional transcriptional activity of the androgen receptor. This common genetic variation profoundly influences an individual’s systemic sensitivity and cellular response to circulating androgens.