Expressive

rs11050138 (FAR2): Blood Gene Expression Variant

Key takeaways

  • The alternate allele of rs11050138 is linked to increased expression of gene ENSG00000257176 in whole blood, detected across 953 donors
  • This is a gene-expression-level finding (called an eQTL), not a confirmed disease association
  • A large childhood glioma GWAS found a different locus (9p21.3/CDKN2B-AS1) to be the first genome-wide significant pediatric brain tumor risk region; rs11050138 is not among its reported lead variants
  • Evidence specific to rs11050138 is limited in the provided data to a single tissue eQTL observation

Key takeaways

  • The alternate allele of rs11050138 is linked to increased expression of gene ENSG00000257176 in whole blood, detected across 953 donors
  • This is a gene-expression-level finding (called an eQTL), not a confirmed disease association
  • A large childhood glioma GWAS found a different locus (9p21.3/CDKN2B-AS1) to be the first genome-wide significant pediatric brain tumor risk region; rs11050138 is not among its reported lead variants
  • Evidence specific to rs11050138 is limited in the provided data to a single tissue eQTL observation

What the research says Expression quantitative trait locus (eQTL) analysis - a method that identifies genetic variants influencing how much a nearby gene is produced - from GTEx v11 (953 donors, cis-window, FDR<0.05) shows the alternate allele of rs11050138 is associated with increased expression of gene ENSG00000257176 in whole blood (p=3.2×10^-6) GTEx Portal. A 2023 multi-ancestry meta-analysis of 4,069 children with glioma and 8,778 controls, spanning 6 genetic ancestries, identified common variants near CDKN2B-AS1 at the 9p21.3 locus as the first genome-wide significant common-variant risk factor for pediatric astrocytoma (OR 1.273, 95% CI 1.179-1.374, p=6.97×10^-¹^0); rs11050138 was not reported among the lead variants in that study.

Reported associations

  • Whole blood gene expression (eQTL): The alternate allele is associated with increased expression of ENSG00000257176 in whole blood (p=3.2×10^-6, 953 donors) GTEx Portal

Evidence quality The sole direct quantitative evidence for rs11050138 in the provided data is a single-tissue eQTL observation from GTEx v11 (whole blood, n=953, p=3.2×10^-6) GTEx Portal. This p-value meets the GTEx FDR<0.05 threshold, indicating a statistically robust expression effect within that dataset, but eQTL findings reflect gene-expression mechanisms rather than clinically confirmed disease outcomes. No GWAS disease associations specific to rs11050138 appear in the provided studies, and no replication data for this variant is available from the provided sources. The childhood glioma GWAS provided as context (4,069 cases, 8,778 controls, 6 ancestries) did not list rs11050138 as a lead variant; its primary discovery was the CDKN2B-AS1 locus at 9p21.3. Evidence for any disease relevance of rs11050138 must be considered preliminary, resting on a single mechanistic observation in one tissue.

Tissue-specific expression effects

  • ENSG00000257176: Increased expression in whole blood when the alternate allele is present (GTEx v11, 953 donors, p=3.2×10^-6) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11050138?

rs11050138 is a common genetic variant located in the FAR2 gene region. Available evidence shows it influences the expression of a nearby gene in whole blood, though no direct disease associations have been established in the provided studies.

What does it mean that rs11050138 is an eQTL?

An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a nearby gene is expressed. GTEx data from 953 donors shows the alternate allele of rs11050138 is linked to increased expression of gene ENSG00000257176 in whole blood.

Is rs11050138 linked to cancer or glioma?

A 2023 childhood glioma study identified the 9p21.3 locus near CDKN2B-AS1 as the first genome-wide significant common risk region for pediatric astrocytoma. rs11050138 was not reported as a lead variant in that study, and no direct link between this variant and glioma appears in the available data.

How strong is the evidence for rs11050138?

Evidence is limited to a single eQTL observation in whole blood from the GTEx dataset (953 donors). No GWAS disease associations for this variant appear in the provided studies, so its clinical relevance remains unestablished.

What is the FAR2 gene region?

FAR2 is the gene region where rs11050138 is located. The provided studies do not describe FAR2's biological function directly; they show only that this variant is associated with nearby gene expression changes in blood tissue.