Expressive

rs10509328 (SGPL1/UNC5B): Cardiac eQTL Variant

Key takeaways

  • The alternate allele of rs10509328 is linked to reduced expression of ENSG00000306492 in heart tissue, based on GTEx data from 953 donors.
  • The same allele is associated with reduced TYSND1 expression in the esophageal gastroesophageal junction.
  • These are regulatory (eQTL) signals that describe gene expression patterns, not established disease risks.
  • No lifestyle or drug-response evidence is currently on record for this variant.

Key takeaways

  • The alternate allele of rs10509328 is linked to reduced expression of gene ENSG00000306492 in heart tissue, based on GTEx data from 953 donors.
  • The same allele is associated with reduced TYSND1 expression in the esophageal gastroesophageal junction.
  • These are regulatory (eQTL) signals that describe gene expression patterns, not established disease risks.
  • No lifestyle or drug-response evidence is currently on record for this variant.

What the research says Large-scale tissue expression profiling from GTEx v11 (953 donors, cis-window analysis, FDR<0.05) shows the alternate allele of rs10509328 is associated with reduced expression of ENSG00000306492 in heart left ventricle (p=1.3×10^-¹^5) and heart atrial appendage (p=2.2×10^-9), and with reduced expression of TYSND1 in the esophageal gastroesophageal junction (p=2.6×10^-5) GTEx Portal. A genome-wide association study (GWAS) of multiple myeloma - a plasma cell cancer - analyzing over 414,000 variants in 1,661 patients was provided as associated research for this locus; the primary finding of that study was a strong association between rs603965, a separate variant in the CCND1 gene, and the t(11;14)(q13;q32) chromosomal translocation subtype of multiple myeloma (OR 1.82, p=7.96×10^-¹¹), but the provided study text does not report specific results for rs10509328.

Reported associations

  • Cardiac gene expression - ENSG00000306492: Reduced expression in heart left ventricle (p=1.3×10^-¹^5) and heart atrial appendage (p=2.2×10^-9) in carriers of the alternate allele, from GTEx v11 cis-eQTL analysis GTEx Portal
  • Esophageal gene expression - TYSND1: Reduced expression in the esophageal gastroesophageal junction (p=2.6×10^-5) in carriers of the alternate allele, from GTEx v11 cis-eQTL analysis GTEx Portal

Evidence quality The eQTL associations from GTEx v11 are derived from 953 donors across multiple tissues using a cis-window framework at FDR<0.05. The cardiac signals (p=1.3×10^-¹^5 in left ventricle; p=2.2×10^-9 in atrial appendage) are statistically strong at the expression level; the esophageal TYSND1 signal (p=2.6×10^-5) is more modest. eQTL effects describe tissue-specific gene regulation and are mechanistic observations - they do not by themselves constitute evidence of disease association or clinical outcome. The multiple myeloma GWAS provided alongside this locus does not explicitly name rs10509328 in the available text, and no disease-level evidence for this variant can be extracted from that source. Overall, evidence for this variant is preliminary and limited to expression-level data; no replication or functional follow-up studies are represented in the provided materials.

Tissue-specific expression effects

  • ENSG00000306492: Reduced expression in both heart left ventricle and heart atrial appendage in carriers of the alternate allele GTEx Portal
  • TYSND1: Reduced expression in the esophageal gastroesophageal junction in carriers of the alternate allele GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10509328?

rs10509328 is a genetic variant located in the region of the SGPL1 and UNC5B genes. Current data show it is associated with reduced expression of two nearby genes, one in heart tissue and one in the esophagus, based on large-scale population expression profiling.

What is an eQTL and why does it matter for rs10509328?

An eQTL (expression quantitative trait locus) is a genetic variant that affects how much a nearby gene is expressed in a specific tissue. For rs10509328, GTEx data from 953 donors show the alternate allele reduces expression of two genes in heart and esophageal tissue, suggesting a regulatory role, though this does not by itself establish disease risk.

Is rs10509328 linked to heart disease?

GTEx data show rs10509328 influences gene expression in heart tissue, but no evidence from the provided studies links it to a specific heart condition. Expression-level effects and disease outcomes are distinct findings that require separate study.

What genes are near rs10509328?

rs10509328 is located in the SGPL1-UNC5B genomic region. GTEx expression data show the variant affects ENSG00000306492 in heart tissue and TYSND1 in esophageal tissue.

Is rs10509328 associated with multiple myeloma?

A multiple myeloma genome-wide association study was provided as research associated with this variant, but the available study text does not report specific findings for rs10509328. No multiple myeloma association for this variant can be confirmed from the provided data.