Question 1

What is the Meaning of Rs700518?

Accepted Answer

Rs700518 designates a single nucleotide polymorphism (SNP) within the human CYP1B1 gene. This genetic variation involves a G to A substitution in the DNA sequence. This alteration leads to an amino acid change from Leucine to Valine in the resulting protein, affecting its function.

Question 2

What is the Context of Rs700518?

Accepted Answer

The CYP1B1 gene encodes Cytochrome P450 1B1, an enzyme primarily involved in metabolizing endogenous hormones, particularly estrogens. This enzyme plays a significant role in estradiol hydroxylation, converting it into various metabolites. Its activity influences estrogen metabolite balance.

Question 3

What is the Significance of Rs700518?

Accepted Answer

The Rs700518 polymorphism can alter CYP1B1 enzymatic activity, influencing estrogen metabolic pathways. Individuals carrying specific variants may exhibit altered ratios of estrogen metabolites, such as 2-hydroxyestrone versus 4-hydroxyestrone. These shifts are relevant for understanding individual predispositions to hormone-related conditions and informing personalized health strategies.

Question 4

What is the Mechanism of Rs700518?

Accepted Answer

At a molecular level, the Rs700518 polymorphism (Leu432Val) modifies the active site or conformation of the CYP1B1 enzyme. This structural change affects the enzyme's binding affinity for substrates like estradiol, altering hydroxylation efficiency. Consequently, the rate at which different estrogen metabolites are produced can be modulated, impacting their downstream biological effects.

Question 5

What is the Application of Rs700518?

Accepted Answer

In clinical practice, genetic testing for Rs700518 can be part of a comprehensive assessment for individuals understanding their genetic predispositions related to estrogen metabolism. While not a standalone diagnostic tool, knowledge of this SNP can help clinicians tailor nutritional or lifestyle interventions supporting healthy estrogen balance.

Question 6

What is the Metric of Rs700518?

Accepted Answer

The presence of Rs700518 is typically determined through genetic testing, utilizing DNA samples from blood, saliva, or buccal swabs. Polymerase Chain Reaction (PCR) followed by sequencing or genotyping arrays are common laboratory methods. Its functional impact can sometimes be inferred by measuring specific estrogen metabolite ratios in urine.

Question 7

What is the Risk of Rs700518?

Accepted Answer

Misinterpretation or overemphasis on a single genetic polymorphism like Rs700518 without considering broader genetic, lifestyle, and environmental context poses a risk. Relying solely on this SNP for significant health decisions or aggressive interventions without comprehensive clinical evaluation is ill-advised. Unverified claims regarding its predictive power without robust scientific evidence can lead to unnecessary anxiety or inappropriate management. Clinical guidance from a qualified healthcare professional is always necessary.

Rs700518

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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