rs1012919 (NFKBIA): Immune and skin expression variant
Key takeaways
- rs1012919 sits near NFKBIA and DNAJC8P1 and influences gene expression in at least three tissue types
- GTEx data links this variant to increased expression of ENSG00000293497 in EBV-transformed lymphocytes (immune cell lines)
- The variant is also associated with increased DPRXP3 expression in non-sun-exposed skin and RALGAPA1 expression in fibroblasts
- No trait-level disease or clinical associations are reported for this variant in the provided research
- Evidence comes from 953 GTEx donors and has not been independently replicated in the provided literature
Key takeaways
- rs1012919 sits in the NFKBIA - DNAJC8P1 region and influences expression of three distinct nearby genes across different tissue types in GTEx data
- GTEx data links this variant to increased expression of ENSG00000293497 in EBV-transformed lymphocytes (immune cell lines derived from white blood cells)
- The variant is also associated with increased DPRXP3 expression in non-sun-exposed skin and RALGAPA1 expression in cultured fibroblasts
- No trait-level disease or clinical GWAS associations are reported for this variant in the provided studies
- Evidence comes from 953 GTEx donors and has not been independently replicated in the provided literature
What the research says GTEx v11 data (953 donors) shows the variant is associated with increased expression of three genes across distinct tissue types, with each association meeting an FDR below 0.05 GTEx Portal. The two largest effects are seen in EBV-transformed lymphocyte cell lines and non-sun-exposed skin (both slope +0.19), while a smaller effect appears in cultured fibroblasts (slope +0.12) GTEx Portal. The provided studies do not report any phenotypic or disease associations for this locus.
Reported associations
- ENSG00000293497 expression in EBV-transformed lymphocytes: The alternate allele is associated with increased expression (slope +0.19, p=8.3e-5, FDR<0.05) in EBV-transformed lymphocyte cell lines (immune cells maintained in laboratory culture) GTEx Portal
- DPRXP3 expression in non-sun-exposed skin: The alternate allele is associated with increased expression (slope +0.19, p=1.8e-4, FDR<0.05) in suprapubic skin tissue (a body region not regularly exposed to sunlight) GTEx Portal
- RALGAPA1 expression in cultured fibroblasts: The alternate allele is associated with increased expression (slope +0.12, p=2.0e-4, FDR<0.05) in cultured fibroblast cells (connective tissue cells maintained in laboratory conditions) GTEx Portal
Evidence quality All available evidence for this locus derives from GTEx v11 eQTL data (eQTL means a genetic variant statistically linked to how much a gene is expressed in a given tissue), covering 953 donors GTEx Portal. The three reported p-values (8.3e-5, 1.8e-4, and 2.0e-4) meet the GTEx FDR<0.05 threshold but are modest in absolute terms. No independent replication of these expression effects is documented in the provided studies, and no phenotypic trait associations are reported. A Genomics England haplotype reference panel built from 78,195 individuals demonstrates improved imputation accuracy for rare variants genome-wide, supporting the technical capacity to study loci like this one at scale, but does not itself report associations for this variant. Overall, the evidence is preliminary and restricted to gene-expression effects in specific tissue types.
Tissue-specific expression effects
- ENSG00000293497: Increased expression in EBV-transformed lymphocytes (immune cell lines) GTEx Portal
- DPRXP3: Increased expression in non-sun-exposed skin (suprapubic region) GTEx Portal
- RALGAPA1: Increased expression in cultured fibroblasts (connective tissue cells grown under laboratory conditions) GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs1012919 do?
Based on GTEx v11 data (953 donors), rs1012919 is associated with increased expression of three genes in different tissues: ENSG00000293497 in immune cell lines, DPRXP3 in non-sun-exposed skin, and RALGAPA1 in fibroblasts. These are tissue-specific expression effects and do not establish a direct link to disease risk.
What gene is rs1012919 near?
rs1012919 is located in the NFKBIA - DNAJC8P1 region. GTEx expression effects are detected in three nearby genes: ENSG00000293497, DPRXP3, and RALGAPA1.
Is rs1012919 linked to any diseases?
The provided research does not report any disease or trait-level associations for rs1012919. Only gene-expression effects in specific tissues are documented.
What is an eQTL and why does it matter for rs1012919?
An eQTL (expression quantitative trait locus) is a genetic variant statistically associated with the level of gene expression in a specific tissue. For rs1012919, GTEx data identifies eQTL effects in immune cells, skin, and fibroblasts, which may offer clues about how this variant influences biology, but these effects alone do not confirm a role in disease.
Which tissues are affected by rs1012919?
GTEx data shows expression effects in three tissue types: EBV-transformed lymphocytes (a type of immune cell line), non-sun-exposed suprapubic skin, and cultured fibroblasts.