Expressive

rs1032833 (CCDC141): SESTD1 eQTL variant

Key takeaways

  • rs1032833, near CCDC141, regulates SESTD1 gene expression differently depending on tissue type.
  • The alternate allele reduces SESTD1 expression in testis and increases it in cultured fibroblasts.
  • Both effects are statistically significant in GTEx v11 data from 953 donors, with p-values below 1.3e-4.
  • No direct disease or trait associations are available from the provided study sources.

Key takeaways

  • rs1032833, located near the CCDC141 gene, has documented effects on SESTD1 gene expression in specific tissues.
  • The alternate allele is associated with reduced SESTD1 expression in testis and increased expression in cultured fibroblasts.
  • Both effects are statistically significant in GTEx v11 data from 953 donors.
  • No direct disease or trait associations are available from the provided study sources.

What the research says

rs1032833, a variant near CCDC141 (coiled-coil domain containing 141), is documented as an expression-quantitative trait locus (eQTL, a type of variant that influences how much RNA a gene produces) for SESTD1 (SEC14 and spectrin domain containing 1) in at least two tissue types GTEx Portal. In testicular tissue, the alternate allele is linked to decreased SESTD1 expression, while in cultured fibroblasts (skin-derived cells grown in a laboratory setting), the same allele is linked to increased expression GTEx Portal. These associations are drawn from GTEx v11 data encompassing 953 donors and meet a false discovery rate (FDR) threshold below 0.05.

Reported associations

  • SESTD1 expression in testis: The alternate allele is associated with reduced SESTD1 expression in testicular tissue (slope: -0.17, p=1.2e-4, GTEx v11, n=953 donors) GTEx Portal.
  • SESTD1 expression in cultured fibroblasts: The alternate allele is associated with increased SESTD1 expression in cultured fibroblasts (slope: +0.14, p=5.4e-5, GTEx v11, n=953 donors) GTEx Portal.

Evidence quality

All available evidence for this variant comes from tissue-specific eQTL data in GTEx v11, derived from 953 donors with FDR below 0.05 in both tissues (testis: p=1.2e-4; cultured fibroblasts: p=5.4e-5) GTEx Portal. No genome-wide association studies (GWAS) or clinical annotations linking this variant to human traits or diseases were included in the provided source materials. eQTL associations indicate that the variant influences gene regulation, but this type of evidence alone does not establish a causal role in any disease or health outcome. The opposing direction of effect between the two tissues is consistent with tissue-specific regulatory contexts commonly observed across the human genome, and the functional consequence of altered SESTD1 expression in either tissue is not established from the available data.

Tissue-specific expression effects

  • SESTD1: The alternate allele is associated with reduced expression in testis and increased expression in cultured fibroblasts, both at FDR-significant levels in GTEx v11 GTEx Portal.

Lifestyle considerations

No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs1032833?

rs1032833 is a common single nucleotide polymorphism (SNP) located near the CCDC141 gene. Current data shows it influences expression of the SESTD1 gene in certain tissues, though no direct disease associations have been established from the available evidence.

What does CCDC141 do?

CCDC141 encodes a protein containing coiled-coil structural domains, which are typically involved in protein-protein interactions. Its specific biological role as it relates to rs1032833 is not described in the available study sources.

Is rs1032833 linked to any disease?

No direct disease associations for rs1032833 were present in the provided study sources. The available evidence is limited to tissue-specific gene expression effects from GTEx eQTL data.

What is an eQTL and why does it matter?

An eQTL, or expression quantitative trait locus, is a genetic variant that influences how much RNA a gene produces in cells. eQTL data can reveal how a variant affects gene regulation, but eQTL effects alone do not confirm a connection to disease.

Why does rs1032833 have opposite effects in testis versus fibroblasts?

The regulatory environment around a gene differs between cell types, so the same genetic change can increase expression in one tissue while decreasing it in another. This pattern is well-documented in GTEx eQTL data across the human genome.