rs115631838 (SLC30A6): Hypothalamus Gene Expression
Key takeaways
- rs115631838 is a variant near SLC30A6 studied in a proteogenomics analysis of more than 10,000 individuals.
- In the brain hypothalamus, this variant is linked to increased expression of the BIRC6-AS2 gene.
- The hypothalamus expression finding is based on 953 tissue donors with p = 1.4e-5 and FDR below 5%.
- No direct disease associations or lifestyle connections are currently established for this variant.
Key takeaways
- rs115631838 is a variant near SLC30A6 studied in a proteogenomics analysis of more than 10,000 individuals measuring nearly 5,000 plasma proteins.
- In brain tissue, this variant is associated with increased expression of the BIRC6-AS2 gene in the hypothalamus.
- The hypothalamus expression finding is based on 953 tissue donors and reaches p = 1.4e-5, with false discovery rate (FDR) below 5%.
- No direct disease associations, drug responses, or lifestyle connections are currently established for this variant.
What the research says A large proteogenomics analysis of 10,708 generally healthy individuals measured 4,775 plasma proteins and identified 10,674 variant-protein associations, constructing a cis-anchored gene-protein-disease map - meaning a map anchored to variants near protein-encoding genes - covering 1,859 connections. Separately, tissue expression data from GTEx (953 donors, FDR < 5%) identify rs115631838 as an eQTL - a variant that influences how actively a nearby gene is expressed - showing increased expression of BIRC6-AS2 specifically in the brain hypothalamus (p = 1.4e-5) GTEx Portal.
Reported associations
- BIRC6-AS2 expression in the brain hypothalamus: This variant is associated with increased expression of BIRC6-AS2 in the hypothalamus, with a positive effect (slope +0.93, p = 1.4e-5, FDR < 5%, n = 953 donors) GTEx Portal.
- Plasma protein association context: The locus falls within a genome-proteome-wide study of 10,708 individuals covering 3,892 protein targets and 1,859 gene-protein-disease connections. Specific protein associations for this individual variant are not detailed in the available study text.
Evidence quality The tissue expression finding for BIRC6-AS2 in the hypothalamus comes from 953 GTEx donors, reaching p = 1.4e-5 within the standard cis-window and meeting FDR < 5%, which is a standard statistical significance threshold used in tissue-level expression studies GTEx Portal. The proteogenomics study in which this locus was examined enrolled 10,708 participants; 64% of novel findings in that study replicated at p < 0.05 with directional consistency, and 61% were validated on a complementary protein measurement platform. Specific replication data for rs115631838 are not available in the provided study text, and no disease outcome links are established. The overall evidence base for this variant should be considered preliminary.
Tissue-specific expression effects
- BIRC6-AS2: Increased expression in brain hypothalamus tissue GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs115631838?
rs115631838 is a genetic variant near the SLC30A6 gene. It has been studied in large-scale plasma protein genetics research and shows effects on gene expression in the brain hypothalamus.
How does rs115631838 affect gene expression in the brain?
Data from 953 tissue donors in GTEx show that rs115631838 is associated with increased expression of the BIRC6-AS2 gene in the hypothalamus, with a significance level of p = 1.4e-5 and false discovery rate below 5%.
Is rs115631838 linked to any diseases?
No direct disease links are confirmed in the available research. The variant was examined in a proteogenomics study broadly mapping protein-disease connections, but specific health outcome associations for rs115631838 are not yet established.
What does BIRC6-AS2 do?
The studies on file do not describe the specific biological function of BIRC6-AS2. What is established is that rs115631838 is associated with increased expression of this gene in the brain hypothalamus.
What is an eQTL and why is it relevant to rs115631838?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how actively a nearby gene is expressed in a given tissue. For rs115631838, this means the variant is linked to higher BIRC6-AS2 activity in the hypothalamus, providing a potential biological mechanism for study even where direct disease links are not yet known.