Expressive

rs10411247 (POLR2E/GPX4): Expression in Blood and Heart

Key takeaways

  • rs10411247 was catalogued in a UK Biobank study examining genetics of 35 blood and urine biomarkers in 363,228 people
  • The alternate allele is linked to increased POLR2E expression in esophageal tissue and in the heart
  • The alternate allele is also linked to increased GPX4 expression in whole blood
  • The variant additionally shows increased ABCA7 expression in unexposed skin tissue
  • These are gene-level expression signals, not direct indicators of disease risk or clinical outcomes

Key takeaways

  • rs10411247 was catalogued in a UK Biobank study examining the genetics of 35 blood and urine biomarkers in 363,228 people
  • The alternate allele is linked to increased POLR2E (RNA Polymerase II Subunit E) expression in esophageal tissue and in the heart
  • The alternate allele is also linked to increased GPX4 (Glutathione Peroxidase 4) expression in whole blood
  • The variant additionally shows increased ABCA7 (ATP-Binding Cassette Subfamily A Member 7) expression in unexposed skin tissue
  • These are gene-level expression signals from tissue data, not direct indicators of disease risk or clinical outcomes

What the research says A genome-wide analysis of 35 blood and urine biomarkers in UK Biobank participants (n=363,228, multi-ancestry meta-analysis) identified 1,857 trait-associated loci and 3,374 fine-mapped associations across the genome; rs10411247 falls in the POLR2E-GPX4 genomic region within this dataset. Tissue-level expression data from GTEx v11 (953 donors, FDR<0.05) shows that the alternate allele at this locus is associated with increased POLR2E expression across esophageal and cardiovascular tissues, and with increased GPX4 expression in whole blood GTEx Portal. A third nearby gene, ABCA7, also shows increased expression in unexposed skin in carriers of the alternate allele GTEx Portal.

Reported associations

  • POLR2E expression, esophagus gastroesophageal junction: the alternate allele is associated with increased POLR2E gene expression (eQTL slope +0.32 in log2-normalized units, p=1.7e-6, GTEx v11 n=953 donors) GTEx Portal
  • POLR2E expression, esophagus muscularis: the alternate allele is associated with increased expression (slope +0.22, p=4.2e-6) GTEx Portal
  • POLR2E expression, heart atrial appendage: the alternate allele is associated with increased expression (slope +0.21, p=2.6e-5) GTEx Portal
  • POLR2E expression, artery tibial: the alternate allele is associated with increased expression (slope +0.19, p=2.7e-5) GTEx Portal
  • GPX4 expression, whole blood: the alternate allele is associated with increased GPX4 expression (slope +0.16, p=8.9e-7) GTEx Portal
  • ABCA7 expression, unexposed skin (suprapubic): the alternate allele is associated with increased ABCA7 expression (slope +0.18, p=4.1e-5) GTEx Portal

Evidence quality The human genetics context for rs10411247 comes from Sinnott-Armstrong et al. (2021, Nature Genetics), a large multi-ancestry GWAS of 35 blood and urine biomarkers in the UK Biobank (overall meta-analysis n=355,891, including White British n=318,953, non-British White n=23,582, African n=6,019, and South Asian n=7,338 participants); no PMID was available in the source metadata for direct inline citation. Population structure was well-controlled across all 35 phenotypes, with LD Score regression intercepts between 0.999 and 1.137. The eQTL signals from GTEx v11 (953 donors, cis-window, FDR<0.05) reach standard significance thresholds and are supported by the multi-tissue reference panel, but eQTL associations reflect changes in gene expression only and do not directly predict clinical phenotypes or disease outcomes. No independent replication data specifically for rs10411247 is described in the provided materials.

Tissue-specific expression effects

  • POLR2E: the alternate allele is linked to increased expression across four tissues, including esophagus gastroesophageal junction (slope +0.32, strongest signal), esophagus muscularis (slope +0.22), heart atrial appendage (slope +0.21), and artery tibial (slope +0.19) GTEx Portal
  • GPX4: the alternate allele is linked to increased expression in whole blood (slope +0.16, p=8.9e-7) GTEx Portal
  • ABCA7: the alternate allele is linked to increased expression in unexposed skin, suprapubic region (slope +0.18, p=4.1e-5) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10411247?

rs10411247 is a genetic variant in the region containing the POLR2E and GPX4 genes, studied as part of a large UK Biobank genetic analysis of 35 blood and urine biomarkers in over 363,000 people.

What does rs10411247 affect in the body?

Tissue expression data from GTEx v11 shows the alternate allele at rs10411247 is linked to higher POLR2E levels in the esophagus, heart, and artery; higher GPX4 levels in whole blood; and higher ABCA7 levels in unexposed skin. These are changes in gene activity, not disease diagnoses.

What is GPX4?

GPX4 stands for Glutathione Peroxidase 4, an enzyme involved in protecting cells from damage caused by oxidized lipids. The alternate allele at rs10411247 is associated with slightly higher GPX4 expression in whole blood based on tissue expression data.

What is POLR2E?

POLR2E stands for RNA Polymerase II Subunit E, a component of the cellular machinery that copies DNA into RNA. The alternate allele at rs10411247 is linked to higher POLR2E expression across esophageal and cardiovascular tissues.

Is rs10411247 linked to any disease?

The available research covers a large-scale biomarker genetics study and tissue expression data. No direct disease associations for rs10411247 are described in the provided research materials.