Expressive

rs112889062 (MIA/SNRPA): Protein expression variant

Key takeaways

  • This variant in the SNRPA-MIA locus was detected as a genetic signal in a ratio-based blood proteomics study of over 54,000 UK Biobank participants.
  • The alternate allele is linked to increased MIA gene expression in aortic artery, tibial nerve, pituitary gland, and esophageal muscle.
  • SERTAD1 expression in coronary artery tissue is also elevated with the alternate allele.
  • RAB4B expression in tibial nerve and an uncharacterized nearby gene in breast and colon tissue are reduced with the alternate allele.
  • Evidence is preliminary; associations are from gene-expression data and a single proteomics study without independent replication for this specific variant.

Key takeaways

  • This variant in the SNRPA-MIA locus was detected as a genetic signal in a ratio-based blood proteomics study of over 54,000 UK Biobank participants.
  • The alternate allele is linked to increased MIA gene expression in aortic artery, tibial nerve, pituitary gland, and esophageal muscle.
  • SERTAD1 expression in coronary artery tissue is also elevated with the alternate allele.
  • RAB4B expression in tibial nerve and an uncharacterized nearby gene in breast and colon tissue are reduced with the alternate allele.
  • Evidence is preliminary; associations are from gene-expression data and a single proteomics study without independent replication for this specific variant.

What the research says A genome-wide association study of ratios between circulating blood protein levels, conducted using Olink proteomics data for 1,463 proteins in over 54,000 UK Biobank samples, identified genetic signals at the SNRPA (Small Nuclear Ribonucleoprotein Polypeptide A)-MIA (Melanoma Inhibitory Activity protein) locus; the study reported that ratio-based approaches increased the number of detected genetic signals by 24.7% and that these loci were 7.6-fold enriched in known protein-protein interactions (Suhre, Cell Genomics, 2024). Gene-expression data from GTEx v11 (953 donors, FDR < 0.05) shows that the alternate allele of rs112889062 is linked to increased MIA expression in aortic artery, tibial nerve, pituitary, and esophageal muscle, while also elevating SERTAD1 (a SERTA domain-containing protein) expression in coronary artery GTEx Portal.

Reported associations

  • MIA expression - Artery Aorta: The alternate allele is associated with increased MIA expression in aortic tissue GTEx Portal
  • MIA expression - Nerve Tibial: The alternate allele is associated with increased MIA expression in tibial nerve tissue GTEx Portal
  • MIA expression - Pituitary: The alternate allele is associated with increased MIA expression in pituitary tissue GTEx Portal
  • MIA expression - Esophagus Muscularis: The alternate allele is associated with increased MIA expression in esophageal smooth muscle GTEx Portal
  • SERTAD1 expression - Artery Coronary: The alternate allele is associated with increased SERTAD1 expression in coronary artery tissue GTEx Portal
  • ENSG00000300700 expression - Breast Mammary Tissue: The alternate allele is associated with reduced expression of an uncharacterized gene (ENSG00000300700) in breast mammary tissue GTEx Portal
  • ENSG00000300700 expression - Colon Sigmoid: The alternate allele is associated with reduced expression of the same uncharacterized gene in sigmoid colon GTEx Portal
  • RAB4B expression - Nerve Tibial: The alternate allele is associated with reduced RAB4B (Ras-related protein involved in endosomal vesicle sorting) expression in tibial nerve GTEx Portal
  • Protein-level ratio signal: This locus was identified in a ratio-based proteomics GWAS of over 54,000 UK Biobank participants, an approach 7.6-fold enriched in known protein-protein interactions (Suhre, Cell Genomics, 2024)

Evidence quality Tissue-expression evidence comes from GTEx v11 (953 donors, FDR < 0.05); these eQTL associations reflect differences in RNA levels rather than protein function or disease outcome directly GTEx Portal. The proteomics GWAS (Suhre, Cell Genomics, 2024) spanned over 54,000 UK Biobank participants, providing substantial statistical power for discovery, but independent replication of this specific variant in an external cohort was not documented in the provided source material. No clinical disease GWAS associations for rs112889062 were included in the source material, and the overall evidence is preliminary and limited to molecular phenotypes.

Tissue-specific expression effects

  • MIA: Increased expression in aortic artery, pituitary gland, tibial nerve, and esophageal muscularis with the alternate allele GTEx Portal
  • SERTAD1: Increased expression in coronary artery with the alternate allele GTEx Portal
  • ENSG00000300700: Reduced expression in breast mammary tissue and sigmoid colon with the alternate allele GTEx Portal
  • RAB4B: Reduced expression in tibial nerve with the alternate allele GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What does the MIA gene do?

MIA (Melanoma Inhibitory Activity) encodes a secreted protein first identified in melanoma cells and also found in cartilage, where it plays a role in cell-matrix interactions. Its name reflects the context of its original discovery, not a universal biological role.

What does rs112889062 do to gene expression?

According to GTEx gene-expression data from 953 donors, the alternate allele of rs112889062 is linked to higher MIA expression in aortic artery, tibial nerve, pituitary, and esophageal muscle, and higher SERTAD1 expression in coronary artery. It is also associated with lower expression of RAB4B in tibial nerve and an uncharacterized gene in breast and colon tissue.

What is SNRPA and why is this variant named after it?

SNRPA (Small Nuclear Ribonucleoprotein Polypeptide A) is a protein involved in RNA splicing, the process cells use to edit genetic instructions before making proteins. The variant name SNRPA-MIA indicates rs112889062 lies in a genomic region near or shared between both the SNRPA and MIA genes.

What is a protein quantitative trait locus (pQTL)?

A pQTL is a genomic position where a genetic variant is statistically associated with differences in the measured level of a specific protein in blood or tissue. Studying pQTLs helps researchers connect genetic variation to protein biology and potentially to disease risk.

Is rs112889062 linked to any diseases?

No direct disease associations for rs112889062 were documented in the source studies provided. The variant was identified in a large proteomics GWAS and has gene-expression effects across multiple tissues, but clinical implications have not been established in the available evidence.