PvuII Rs2234693 ∞ Area

PvuII Rs2234693

Meaning

PvuII Rs2234693 denotes a specific single nucleotide polymorphism (SNP), rs2234693, within the CYP17A1 gene, often analyzed using the PvuII restriction enzyme. This genetic variation involves a single base pair change on chromosome 10, influencing the gene encoding cytochrome P450c17. Different alleles at this locus can modulate steroid hormone synthesis efficiency.

Context

This genetic marker functions within steroid hormone biosynthesis, primarily in adrenal glands and gonads. The CYP17A1 gene produces 17α-hydroxylase/17,20-lyase, an essential enzyme converting progestogens into androgens and estrogens. Variations like rs2234693 can modulate this enzyme’s activity, affecting production rates of key steroid hormones. Its central role impacts hormonal balance.

Significance

Specific alleles at the rs2234693 locus hold clinical significance due to their association with altered steroid hormone profiles. This genetic variation links to conditions influenced by sex hormones, including polycystic ovary syndrome (PCOS) and prostate cancer risk. Understanding an individual’s genotype offers insights into predisposition to endocrine dysregulations or potential therapy response, aiding personalized health management.

Mechanism

The rs2234693 SNP is a T-C polymorphism in the CYP17A1 gene’s promoter. Not altering protein sequence, variations affect gene transcription. The C allele associates with increased transcriptional activity compared to the T allele. This can lead to higher P450c17 enzyme levels, shifting towards greater androgen and estrogen production, impacting systemic hormone concentrations.

Application

Genotyping for rs2234693 can be part of a comprehensive genetic risk assessment for individuals with hormonal imbalance or a family history of related conditions. While not a primary diagnostic tool, it aids understanding genetic predisposition in steroidogenesis. This information supports tailored therapeutic approaches, like lifestyle modifications or targeted interventions, aiming to optimize hormonal health and mitigate risks.

Metric

The rs2234693 SNP is typically detected via molecular genetic testing, often using polymerase chain reaction (PCR) with restriction fragment length polymorphism (RFLP) analysis using PvuII, or direct DNA sequencing. The test identifies specific alleles (e.g., TT, TC, CC genotype). Clinical evaluation also measures circulating levels of relevant steroid hormones to correlate genetic predispositions with phenotypic hormonal profiles.

Risk

Misinterpreting rs2234693 genotyping results without full clinical context poses substantial risk. Relying solely on genetic information without correlating it with comprehensive hormonal assays, symptoms, and other factors can lead to inappropriate interventions. The CYP17A1 gene is one of many influences on hormone levels; attributing all dysregulation solely to this SNP without proper medical supervision may result in misdiagnosis or delayed care.