rs116823700 (MEIS1-AS3): Multi-tissue eQTL variant
Key takeaways
- This variant acts as an expression QTL (eQTL) for four genes across five tissue types in the MEIS1 genomic region
- The alternate allele is associated with reduced MEIS1 protein-coding gene expression in lung tissue
- MEIS1-AS3 expression is increased in cultured fibroblasts and sun-exposed skin, while MEIS1-AS2 expression is reduced in adrenal gland and lung
- LINC01797, a long intergenic non-coding RNA, shows reduced expression in pancreas
- Clinical significance of these expression changes has not been established from the available evidence
Key takeaways
- This variant acts as an expression QTL (eQTL) for four genes across five tissue types in the MEIS1 genomic region
- The alternate allele is associated with reduced MEIS1 protein-coding gene expression in lung tissue
- MEIS1-AS3 expression is increased in cultured fibroblasts and sun-exposed skin, while MEIS1-AS2 expression is reduced in adrenal gland and lung
- LINC01797, a long intergenic non-coding RNA, shows reduced expression in pancreas
- Clinical significance of these expression changes has not been established from the available evidence
What the research says A large-scale proteogenomic study (Suhre K, Cell Genomics, 2024) analyzed 1,463 blood proteins in over 54,000 UK Biobank samples using the Olink proximity extension assay platform, with a ratio-based approach that identified 4,248 associations across 2,821 protein pairs, increased total genetic signal discovery by 24.7%, and showed 7.6-fold enrichment in known protein-protein interactions. GTEx v11 expression data (953 donors, cis-window, FDR<0.05) shows rs116823700 acts as an eQTL (a variant that influences how much a nearby gene is expressed) for four genes in this locus, with the alternate allele both increasing and reducing expression depending on the gene and tissue GTEx Portal.
Reported associations
- LINC01797 expression, pancreas: The alternate allele is associated with reduced expression of this long intergenic non-coding RNA in pancreatic tissue GTEx Portal
- MEIS1-AS2 expression, adrenal gland: The alternate allele is associated with reduced expression of this antisense RNA in adrenal gland GTEx Portal
- MEIS1-AS2 expression, lung: The alternate allele is also associated with reduced expression of MEIS1-AS2 in lung tissue GTEx Portal
- MEIS1-AS3 expression, cultured fibroblasts: The alternate allele is associated with increased expression of this antisense RNA in cultured fibroblast cells GTEx Portal
- MEIS1-AS3 expression, sun-exposed skin: The alternate allele is associated with increased expression of MEIS1-AS3 in sun-exposed lower leg skin GTEx Portal
- MEIS1 expression, lung: The alternate allele is associated with reduced expression of MEIS1 (Meis homeobox 1), a protein-coding gene, in lung tissue GTEx Portal
Evidence quality The eQTL findings for rs116823700 come from GTEx v11 (953 donors, FDR<0.05), a well-characterized multi-tissue expression resource, and span four genes across five tissue types. The UK Biobank proteogenomic study (Suhre K, Cell Genomics, 2024) analyzed over 54,000 individuals with 1,463 proteins, though the available study text does not detail this specific variant's protein-level associations. No clinical disease associations or independent replication data for rs116823700 are described in the provided evidence, and the eQTL findings represent mechanistic data on gene regulation rather than evidence of clinical outcomes.
Tissue-specific expression effects
- LINC01797: The alternate allele is associated with reduced expression in pancreas GTEx Portal
- MEIS1-AS2: The alternate allele is associated with reduced expression in both adrenal gland and lung GTEx Portal
- MEIS1-AS3: The alternate allele is associated with increased expression in cultured fibroblasts and sun-exposed skin GTEx Portal
- MEIS1: The alternate allele is associated with reduced expression in lung GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What gene is rs116823700 associated with?
rs116823700 is located near several genes including LINC01873, MEIS1-AS3, and MEIS1, a protein-coding gene. Gene expression data shows it influences how much these and nearby genes are expressed in specific tissues.
What is an eQTL and why does it matter for rs116823700?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a gene is expressed in a given tissue. rs116823700 acts as an eQTL for four genes across five tissues, meaning it may affect how active those genes are in the body, though the health consequences of these changes are not yet established.
Which tissues are affected by rs116823700?
GTEx data shows this variant affects gene expression in five tissue types: pancreas, adrenal gland, lung, sun-exposed lower leg skin, and cultured fibroblasts. The direction of effect (increase or decrease) differs by gene and tissue.
Is rs116823700 linked to any disease?
The available studies do not report a direct association between rs116823700 and any specific disease or health condition. The evidence to date covers tissue-specific gene expression effects only.
What are MEIS1-AS2 and MEIS1-AS3?
MEIS1-AS2 and MEIS1-AS3 are antisense RNA genes located near MEIS1. Antisense RNAs are non-coding RNA molecules transcribed from the opposite strand of a protein-coding gene and may play roles in regulating gene expression, though their specific function in the context of rs116823700 is not described in the available evidence.