Expressive

rs11619707 (MCF2L): Pancreatic ATP11A eQTL

Key takeaways

  • rs11619707 in MCF2L is associated with increased ATP11A expression specifically in pancreatic tissue
  • The expression effect is tissue-specific, detected only in pancreas in the available GTEx data
  • A pediatric glioma GWAS of 4069 cases found its primary risk locus at 9p21.3, not in MCF2L
  • No direct disease association for rs11619707 has been confirmed in the reviewed literature

Key takeaways

  • rs11619707 is an expression quantitative trait locus (eQTL) for ATP11A in pancreatic tissue, with the alternate allele associated with increased expression
  • The expression effect is tissue-specific, detected only in pancreas among the tissues represented in the available GTEx data
  • A large multi-ancestry pediatric glioma genome-wide association study (GWAS) meta-analysis covering 4069 cases and 8778 controls identified 9p21.3 as its primary significant locus; rs11619707 was not a highlighted finding in that work
  • No disease associations for rs11619707 have been established from the reviewed studies

What the research says A meta-analysis of three population-based GWASs investigated 4069 children with glioma and 8778 controls across multiple genetic ancestries, identifying CDKN2B-AS1 at 9p21.3 as the first genome-wide significant common-variant risk locus for childhood astrocytoma (rs573687, OR 1.273, 95% CI 1.179-1.374, P=6.974×10^-¹^0); rs11619707 was not reported among the significant findings from this study. GTEx v11 eQTL data from 953 donors show that the alternate allele at this locus is associated with increased ATP11A expression in pancreatic tissue (slope +0.38, P=8.7×10^-6) GTEx Portal.

Reported associations

  • Childhood astrocytoma (study context): A multi-ancestry meta-analysis of 4069 pediatric glioma cases investigated common variant risk genome-wide; the primary significant locus was CDKN2B-AS1 at 9p21.3, not at this locus
  • ATP11A pancreatic expression (eQTL): The alternate allele is associated with increased ATP11A expression in pancreatic tissue GTEx Portal

Evidence quality The pediatric glioma GWAS meta-analysis was among the largest studies of its kind at publication (4069 cases, 8778 controls, six genetic ancestries, independent replication cohort), but its primary genome-wide significant finding at 9p21.3 (P=6.974×10^-¹^0) does not implicate rs11619707. The GTEx eQTL finding in pancreas meets a standard significance threshold (FDR<0.05, 953 donors), providing moderate mechanistic evidence that this variant influences gene regulation in a tissue-specific manner; eQTL data describe molecular expression patterns rather than clinical outcomes. Overall, direct evidence linking this locus to any disease phenotype is limited and should be considered preliminary based on the reviewed sources.

Tissue-specific expression effects

  • ATP11A: Increased expression in pancreatic tissue is associated with the alternate allele; no other tissues reached significance in the provided GTEx data GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What gene is rs11619707 located in?

rs11619707 is located in MCF2L. GTEx data show it is also associated with expression of ATP11A in pancreatic tissue, making it an eQTL for that gene in the pancreas.

Is rs11619707 linked to brain tumors or glioma?

A large genome-wide study of 4069 children with glioma was among the reviewed studies, but rs11619707 was not identified as a significant risk variant. The primary finding from that study was at a separate genomic region, 9p21.3, in a gene called CDKN2B-AS1.

What is an eQTL and why does it matter?

An eQTL, or expression quantitative trait locus, is a genetic variant associated with differences in how much a gene is expressed in a specific tissue. These findings help researchers understand how variants may influence biology, but they do not by themselves establish a link to disease outcomes.

What does the GTEx data show for rs11619707?

GTEx v11 data from 953 donors show that the alternate allele of rs11619707 is associated with increased expression of the ATP11A gene in pancreatic tissue, with a statistically significant effect (P=8.7×10^-6, FDR<0.05).

How strong is the evidence for rs11619707?

Evidence is limited. The GTEx eQTL finding in pancreas meets standard significance criteria, but no confirmed disease associations for rs11619707 appear in the reviewed studies. The evidence should be considered preliminary.