Expressive

rs11033008 (CD44): Pancreas eQTL Gene Variant

Key takeaways

  • The alternate allele at rs11033008 is linked to reduced gene expression in pancreas tissue based on GTEx data from 953 donors.
  • No specific disease or trait associations for this variant are confirmed in the provided literature.
  • Large-scale GWAS applied to over 400,000 UK Biobank participants examined this genomic region, but trait-level findings for this variant are not detailed in the available excerpt.
  • Evidence for this variant is currently limited to a single tissue-level eQTL signal in the pancreas and should be considered preliminary.

Key takeaways

  • The alternate allele at rs11033008 is linked to reduced expression of a nearby gene (ENSG00000251194) in pancreas tissue, based on GTEx eQTL data from 953 donors.
  • No specific disease or trait associations for this variant are confirmed in the available literature.
  • Large-scale GWAS applied to over 400,000 UK Biobank participants has examined this genomic region, though trait-level findings for this variant are not detailed in the available study excerpt.
  • The current evidence base is limited to a single tissue-level expression signal in the pancreas and should be considered preliminary.

What the research says A large-scale genome-wide association study using the Quickdraws method was applied to 405,088 UK Biobank participants covering 79 quantitative and 50 binary traits, though the specific findings for this locus are not detailed in the provided excerpt. In pancreas tissue, the alternate allele at rs11033008 is associated with reduced expression of ENSG00000251194, an eQTL (expression quantitative trait locus, meaning a genomic position where a variant influences how actively a nearby gene is expressed) signal with an effect size (slope) of approximately -0.27 on a log2-normalized scale and p=3.1e-6, measured across 953 donors GTEx Portal. No specific trait or disease association for this locus is described in the provided studies.

Reported associations

  • Pancreas gene expression (ENSG00000251194): The alternate allele is linked to reduced expression of this gene in pancreas tissue, with an eQTL effect size (slope) of approximately -0.27 and p=3.1e-6 GTEx Portal.

Evidence quality The available evidence includes a methodological GWAS study applied to 405,088 UK Biobank participants across 79 quantitative and 50 binary traits, and GTEx eQTL reference data from 953 donors across multiple tissues. The pancreatic eQTL signal for this locus reached p=3.1e-6, meeting the FDR correction threshold used by GTEx. No replicated trait or disease associations for this locus are described in the provided studies, and no replication data are available in the provided sources. The evidence base is therefore limited and should be considered preliminary.

Tissue-specific expression effects

  • ENSG00000251194: The alternate allele is associated with reduced expression in pancreas tissue GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11033008?

rs11033008 is a genetic variant in the CD44 region. Based on available evidence, it is associated with changes in gene expression in pancreas tissue, though no specific disease has been linked to it in the provided studies.

What is an eQTL and why does it matter for rs11033008?

An eQTL, or expression quantitative trait locus, is a genetic variant associated with changes in how much a nearby gene is expressed in a given tissue. For rs11033008, the alternate allele is linked to reduced activity of a nearby gene specifically in the pancreas, according to GTEx reference data from 953 donors.

Is rs11033008 linked to any diseases?

No specific disease associations for rs11033008 are described in the provided studies. The available evidence is limited to a tissue-level gene expression signal in the pancreas.

How reliable is the evidence for rs11033008?

The evidence is preliminary. The main finding is a pancreatic gene expression signal at p=3.1e-6 from GTEx data across 953 donors. No replicated trait or disease associations are available in the provided literature.