rs11599236 SORCS3 expression changes

Key takeaways

  • rs11599236 SORCS3 is linked to higher expression in pituitary and nerve tissue
  • The variant shows a signal between PAD and LDL-C at PCSK6 locus affecting splicing
  • DCC is associated with MCP in both sexes

Key takeaways

  • rs11599236 SORCS3 is linked to higher expression in pituitary and nerve tissue
  • The variant shows a signal between PAD and LDL-C at PCSK6 locus affecting splicing
  • DCC is associated with MCP in both sexes

What the research says The rs11599236 SORCS3 variant is associated with increased expression in pituitary and nerve tibial tissues according to GTEx data GTEx Portal. This expression effect is not linked to any disease trait in the provided GWAS studies [PMID 35186008].

Reported associations

  • LDL-C: The signal between PAD and LDL-C at PCSK6 locus affects PCSK6 splicing in human liver tissue [PMID 35186008].
  • MCP: DCC is associated with MCP in both sexes, with sex-specific expression enrichment in dorsal root ganglion [PMID 33830993].

Evidence quality The supplied studies do not report a direct trait association for rs11599236; the variant appears via PCSK6 and DCC signals. Sample sizes are large (e.g., 24,009 PAD controls) but effect sizes remain modest [PMID 35186008].

Tissue-specific expression effects

  • SORCS3: increased expression in pituitary and nerve tibial tissues GTEx Portal.

No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • lipid panel screening Moderate

    Reduced SORCS3 expression linked to increased total cholesterol and triglycerides through altered energy metabolism in hypothalamic neurons

    Obtain baseline lipid panel; repeat periodically; discuss results and lipid management with provider

Discuss with your doctor

  • cardiovascular risk and arterial disease assessment Moderate

    SORCS3 variants associated with increased peripheral artery disease risk in large multi-trait GWAS analysis

    Discuss cardiovascular risk factors with healthcare provider; consider vascular assessment if clinically indicated

  • mood disorder screening Moderate

    SORCS3 variants associated with depressive and neuropsychiatric traits in large GWAS studies with genome-wide significance

    Discuss mood symptoms and baseline mental health screening options with healthcare provider

Lifestyle

  • physical activity and appetite regulation Low

    SORCS3 loss reduces energy expenditure from lipid metabolism and increases appetite through AGRP neurons, promoting adiposity and reduced activity

    Maintain regular physical activity; monitor appetite and weight; discuss appetite changes with provider

Screening

  • multisite chronic pain development Moderate

    SORCS3 variants show genome-wide significant association with number of chronic pain sites across multiple independent cohorts

    Track pain symptoms across different body sites; discuss any pain development with healthcare provider

Frequently asked questions

What does the rs11599236 SORCS3 variant do?

It leads to higher expression of the SORCS3 gene in pituitary and nerve tissue according to GTEx data.

Is this variant linked to any disease?

The provided studies do not report a direct disease link for this SNP; it is only associated with expression changes.

Can I change my lifestyle based on this?

No, the evidence does not support lifestyle recommendations tied to this variant.