What is the Origin of PvuII Rs2234693?

The nomenclature is scientific and technical: "PvuII" refers to the restriction enzyme originally used to identify this variation, and "Rs2234693" is the unique reference number assigned to this specific polymorphism in the dbSNP database. It originates from the field of molecular genetics and endocrinology.

What is the Mechanism of PvuII Rs2234693?

The presence of a specific allele at the Rs2234693 site can alter the transcription or splicing of the ESR1 gene, leading to variations in the structure or quantity of the estrogen receptor protein. Since estrogen signaling is pervasive, this mechanism can impact multiple physiological systems, including the hypothalamic-pituitary-gonadal axis, bone remodeling processes, and lipid metabolism, influencing overall hormonal health and disease susceptibility.

PvuII Rs2234693

Meaning

PvuII Rs2234693 is a specific genetic marker, or single nucleotide polymorphism (SNP), located within the estrogen receptor alpha gene (ESR1). This particular SNP is characterized by a variation in the DNA sequence that can influence the efficiency and expression of the estrogen receptor, thereby affecting an individual’s sensitivity to estrogen and related hormonal signaling. Clinical interest lies in its potential role as a predictor of bone mineral density, cardiovascular risk, and response to hormone therapies.