Question 1

What is the Meaning of Rs10046?

Accepted Answer

A specific single nucleotide polymorphism (SNP) identified by the reference SNP cluster ID rs10046, located within the gene CYP19A1 that encodes the aromatase enzyme. This genetic variant is clinically studied for its potential influence on aromatase activity, and consequently, its effect on circulating estrogen levels and the efficacy of aromatase inhibitor therapy in breast cancer patients. It serves as a key pharmacogenetic marker.

Question 2

What is the Origin of Rs10046?

Accepted Answer

The designation rs10046 is a standardized nomenclature from the dbSNP database, a central repository for genetic variation maintained by the National Center for Biotechnology Information (NCBI). This specific SNP was identified through genome-wide association studies and targeted sequencing efforts aimed at understanding the genetic basis of hormone metabolism and endocrine drug response.

Question 3

What is the Mechanism of Rs10046?

Accepted Answer

As a non-coding region polymorphism, rs10046 is hypothesized to influence the transcription or splicing of the CYP19A1 gene, potentially altering the quantity or type of aromatase enzyme produced. Changes in enzyme expression can modify the rate of androgen-to-estrogen conversion, affecting baseline estrogen levels. Furthermore, the presence of specific alleles at this locus may correlate with differential binding of transcription factors, leading to a varied response to aromatase inhibitor drugs.

Rs10046

Meaning

Origin

Mechanism

How Do Genetic Variations Affect Aromatase Inhibitor Side Effects?

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