Expressive

rs115836766 (MROH2A): Biomarker and Expression Variant

Key takeaways

  • rs115836766 was identified in one of the largest genetic studies of blood and urine biomarkers, covering 363,228 individuals across five ancestry groups.
  • The alternate allele reduces MROH2A gene expression in non-sun-exposed skin and increases it in thyroid, with effects of similar magnitude in opposite directions.
  • These tissue-specific effects suggest this variant acts as a context-dependent regulator of MROH2A activity.
  • The specific blood or urine biomarker linked to this variant is not described in the available study text.

Key takeaways

  • rs115836766 was identified in one of the largest genetic studies of blood and urine biomarkers, covering 363,228 individuals across five ancestry groups.
  • The alternate allele reduces MROH2A gene expression in non-sun-exposed skin and increases it in thyroid, with effects of similar magnitude in opposite directions.
  • These tissue-specific effects suggest this variant acts as a context-dependent regulator of MROH2A activity.
  • The specific blood or urine biomarker linked to this variant is not described in the available study text.

What the research says A genome-wide association study of 35 blood and urine biomarkers in the UK Biobank evaluated 363,228 individuals across five ancestry groups and identified 1,857 associated loci containing 3,374 fine-mapped associations, applying Bonferroni-corrected thresholds (p < 5e-9 for assayed and imputed variants). The MROH2A locus (Maestro Heat-Like Repeat Family Member 2A, chromosome 2) was captured in this analysis, though the provided study excerpts do not specify which biomarker(s) this particular variant is associated with. Tissue-level expression data from GTEx v11 (953 donors, cis-window, FDR < 0.05) shows the alternate allele at rs115836766 reduces MROH2A expression in non-sun-exposed suprapubic skin (slope -0.63, p=1.1e-7) and increases it in thyroid (slope +0.61, p=6.6e-7) GTEx Portal.

Reported associations

  • Blood or urine biomarker(s), UK Biobank GWAS (n=363,228): rs115836766 was among 1,857 loci identified in a study of 35 clinical lab measurements across five population groups; the specific biomarker is not named in the provided study text.

Evidence quality The UK Biobank biomarker GWAS included 363,228 individuals across five ancestry groups (White British n=318,953; non-British White n=23,582; South Asian n=7,338; African n=6,019; East Asian n=1,082), with meta-analysis conducted across all but the smallest group. Bonferroni-corrected significance thresholds (p < 5e-9 for assayed and imputed variants) were applied, and LD score regression intercepts of 0.999 to 1.137 across all 35 traits indicate well-controlled population structure. The GTEx eQTL evidence (953 donors, FDR < 0.05) provides independent functional support that rs115836766 influences MROH2A gene activity in a tissue-specific manner GTEx Portal. Because the available study text does not state which specific biomarker this variant is associated with, it is not possible to report an effect size or replication status for the phenotypic association.

Tissue-specific expression effects

  • MROH2A: The alternate allele is associated with reduced expression in non-sun-exposed suprapubic skin and increased expression in thyroid tissue GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is the MROH2A gene?

MROH2A, short for Maestro Heat-Like Repeat Family Member 2A, is a protein-coding gene on chromosome 2. Its full biological role is not established in the available research, but genetic data show that its expression level varies across tissues and is influenced by nearby variants like rs115836766.

What does rs115836766 affect in the body?

Based on UK Biobank data, rs115836766 is associated with one or more blood or urine biomarkers, though the specific biomarker is not described in the available study text. Separately, tissue-level data show it changes how much MROH2A gene activity occurs in skin and thyroid.

Why does the same variant increase expression in one tissue and decrease it in another?

This pattern is called a tissue-specific eQTL effect. Different cell types use different regulatory proteins and genomic contexts, so the same variant can shift gene activity in different directions depending on which tissue it is active in. The specific regulatory mechanism for this variant has not been described in the available data.

Is rs115836766 linked to any disease?

The available studies do not report a direct association between rs115836766 and any specific disease. It was identified in a biomarker GWAS and has documented tissue expression effects, but no disease link is described in the provided research.

How large was the study that identified this variant?

The UK Biobank biomarker study that captured this locus included 363,228 individuals across five ancestry groups, making it one of the largest genetic studies of clinical lab measurements conducted to date.