rs10113441 (OPLAH): Blood metabolite locus
Key takeaways
- rs10113441 sits near the OPLAH gene and was flagged in a genome-wide study of 690 blood metabolites in 8,299 people.
- The alternate allele is linked to reduced EPPK1 gene expression in the pancreas.
- In whole blood, the same allele is tied to increased PLEC gene expression.
- Evidence comes from a single study cohort with no published replication for this specific locus.
Key takeaways
- rs10113441 sits near the OPLAH gene and was flagged in a genome-wide study of 690 blood metabolites in 8,299 people.
- The alternate allele is linked to reduced EPPK1 gene expression in the pancreas.
- In whole blood, the same allele is tied to increased PLEC gene expression.
- Evidence comes from a single study cohort with no published replication for this specific locus.
What the research says A genome-wide association study (GWAS - a method that scans hundreds of thousands of genetic positions across the genome at once) of 1,091 plasma metabolites in 8,299 participants from the Canadian Longitudinal Study on Aging identified 690 variant-metabolite associations at 248 genomic loci, using a significance threshold of 6.85x10-10 adjusted for the effective number of independent metabolites. rs10113441 falls near the OPLAH locus, one of the regions captured in this metabolome-wide scan. Separately, population-level expression data from GTEx v11 (953 donors) link the alternate allele at this position to reduced EPPK1 expression in the pancreas and increased PLEC expression in whole blood GTEx Portal.
Reported associations
- Blood metabolite levels: This variant falls within a locus identified in a metabolomics GWAS of 690 metabolites across 8,299 participants; the specific metabolite associations at this locus are not detailed in the available study text.
- EPPK1 expression (pancreas): The alternate allele is associated with reduced expression of the EPPK1 gene in pancreatic tissue GTEx Portal.
- PLEC expression (whole blood): The alternate allele is associated with increased expression of the PLEC gene in whole blood GTEx Portal.
Evidence quality The primary GWAS contributing to this entry enrolled 8,299 individuals from a single cohort and applied a significance threshold of 6.85x10-10 (a Bonferroni-style correction adjusted for 73 effectively independent metabolite dimensions). No replication in an independent cohort is described in the provided study text, and the specific metabolite associations at this locus are not detailed in the available excerpt. GTEx expression data are derived from 953 donors across multiple tissues at FDR (false discovery rate) < 0.05; these represent eQTL (expression quantitative trait loci) signals - statistical associations between a genetic variant and gene activity levels in a given tissue - rather than direct measurements of disease outcomes. Overall, the evidence for this variant is preliminary and limited to a single GWAS cohort plus tissue expression data.
Tissue-specific expression effects
- EPPK1: The alternate allele is linked to reduced expression in the pancreas GTEx Portal.
- PLEC: The alternate allele is linked to increased expression in whole blood GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What gene is rs10113441 associated with?
rs10113441 falls near the OPLAH gene. It was identified in a large genome-wide study of blood metabolite genetics involving 8,299 individuals, though the specific metabolite it influences at this locus is not detailed in the available evidence.
What does rs10113441 do to gene expression?
Population-level data from GTEx show that the alternate allele at rs10113441 reduces EPPK1 expression in the pancreas and increases PLEC expression in whole blood. These are statistical associations from tissue samples across hundreds of donors, not direct measurements of disease outcomes.
Is rs10113441 linked to any disease?
The available evidence places rs10113441 in the context of a metabolomics study that explored relationships between genetic variants, blood metabolite levels, and twelve traits and diseases. No direct disease association specific to this locus is described in the available study text.
How reliable is the evidence for rs10113441?
The primary study used a stringent significance threshold and enrolled 8,299 individuals, but no independent replication of the OPLAH locus is described in the available evidence. Findings for this variant should be considered preliminary.