rs1199029 (ZNF704): Biomarker Genetics & eQTL
Key takeaways
- rs1199029 sits at the ZNF704 locus and was identified in a genome-wide study of 35 blood and urine biomarkers in 363,228 UK Biobank participants
- The broader study found 1,857 significant genetic loci using a strict p < 5 x 10^-9 significance threshold
- The ALT allele increases expression of a nearby gene (ENSG00000304861) in sun-exposed skin (slope +0.61) and lung (slope +0.54) per GTEx v11 data from 953 donors
- These expression effects are mechanistic clues, not direct health-outcome predictors
- The specific blood or urine biomarker linked to rs1199029 was not available in the provided study text
Key takeaways
- rs1199029 is a genetic variant at the ZNF704 locus, studied in the context of a large genome-wide analysis of 35 blood and urine biomarkers in 363,228 UK Biobank participants
- The broader study identified 1,857 significant genomic loci using a strict significance threshold of p < 5 x 10^-9
- GTEx v11 data from 953 donors shows the ALT allele of rs1199029 is linked to increased expression of gene ENSG00000304861 in sun-exposed skin (effect size +0.61) and lung (+0.54)
- These expression signals are mechanistic observations and do not by themselves establish disease risk
- The specific blood or urine biomarker linked to rs1199029 was not detailed in the available study text
What the research says A genome-wide association study (GWAS, a scan of millions of genetic variants to find those linked to measured traits) of 35 blood and urine biomarkers in the UK Biobank enrolled 363,228 individuals, with a combined analysis across population groups (White British, non-British White, African, and South Asian) extending to 355,891 participants; the study found 1,857 genomic locations at a strict Bonferroni-corrected significance cutoff of p < 5 x 10^-9, and the ZNF704 locus is among those examined. Gene expression data from GTEx v11 (953 donors) shows the ALT allele of rs1199029 is associated with increased expression of ENSG00000304861 in sun-exposed lower leg skin (effect size +0.61 on a log2 scale, p=1.1x10^-4) and in lung tissue (effect size +0.54, p=1.5x10^-4) GTEx Portal.
Reported associations
- Blood or urine biomarker: rs1199029 at the ZNF704 locus was implicated in a GWAS of 35 biomarkers in 363,228 UK Biobank participants; the specific biomarker and its effect size are not identified in the available study text
- Gene expression in sun-exposed skin: The ALT allele is linked to increased expression of ENSG00000304861 in sun-exposed lower leg skin (slope +0.61, p=1.1x10^-4, GTEx v11) GTEx Portal
- Gene expression in lung: The ALT allele is linked to increased expression of ENSG00000304861 in lung tissue (slope +0.54, p=1.5x10^-4, GTEx v11) GTEx Portal
Evidence quality The UK Biobank biomarker GWAS used a large and well-powered sample (n=363,228; combined analysis up to n=355,891 across four population groups) with a strict Bonferroni-corrected threshold of p < 5 x 10^-9. Effect sizes showed high agreement with 42 previously published cohorts across 25 of the 35 biomarkers, supporting the overall reliability of the study. Because the available study text does not specify which biomarker rs1199029 is associated with, or its variant-level effect size, the magnitude of this locus's contribution cannot be assessed from this excerpt alone. GTEx v11 eQTL (expression quantitative trait locus, meaning a genetic variant that influences how much a gene is transcribed) data from 953 donors at FDR < 0.05 provides tissue-specific evidence that this variant influences gene expression in skin and lung; eQTL signals reflect regulatory mechanisms and do not independently establish clinical significance.
Tissue-specific expression effects
- ENSG00000304861: The ALT allele is associated with increased expression in both sun-exposed lower leg skin and lung tissue GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs1199029?
rs1199029 is a common genetic variant located at the ZNF704 gene locus. It has been examined in a large UK Biobank genome-wide study of 35 blood and urine biomarkers across more than 363,000 participants.
What does rs1199029 do to gene expression?
GTEx v11 data from 953 donors shows the ALT allele of rs1199029 is associated with increased expression of a nearby gene (ENSG00000304861) in sun-exposed lower leg skin and in lung tissue. These are expression-level observations, not clinical outcomes.
Is rs1199029 linked to any diseases or health conditions?
The available research places rs1199029 in a large UK Biobank genome-wide study of blood and urine biomarkers, suggesting it influences at least one measured biomarker. The specific biomarker was not detailed in the data available here, and no direct disease link is established from the sources reviewed.
What is ZNF704?
ZNF704 is the gene at whose locus rs1199029 is located. GTEx expression data shows that this variant influences how much a gene in this region is expressed in sun-exposed skin and lung tissue.
How large was the study examining the ZNF704 locus?
The UK Biobank genome-wide association study included 363,228 unrelated individuals in its primary analysis, with a combined cross-ancestry analysis extending to 355,891 participants across White British, non-British White, African, and South Asian population groups.