rs117783250 (TXNL4B): Blood Biomarker & Skin Gene Expression
Key takeaways
- rs117783250 at the TXNL4B locus was found in a UK Biobank study of 363,228 people examining the genetics of 35 blood and urine markers.
- GTEx data show the alternate allele increases expression of MARVELD3 in both sun-exposed and non-sun-exposed skin tissue.
- The same variant is also linked to increased PHLPP2 expression in lung and increased ZNF23 expression in non-sun-exposed skin.
- These are gene-expression signals, not direct indicators of disease risk.
- No drug response annotations or lifestyle-specific findings are currently on file for this variant.
Key takeaways
- rs117783250 sits at the TXNL4B (thioredoxin-like 4B) locus and was identified among thousands of variants associated with blood or urine markers in a UK Biobank study of 363,228 people.
- The specific blood or urine marker linked to this locus is not detailed in the available study text.
- GTEx eQTL data show the alternate allele is associated with increased expression of MARVELD3 in both sun-exposed and non-sun-exposed skin tissue.
- The alternate allele is also linked to increased PHLPP2 expression in lung tissue and increased ZNF23 expression in non-sun-exposed skin.
- These are tissue-level gene-expression signals, not direct indicators of disease risk.
What the research says A genome-wide association study (GWAS) of 35 blood and urine biomarkers in 363,228 UK Biobank participants identified 1,857 loci with at least one associated trait, including the TXNL4B locus where rs117783250 resides; the specific biomarker linked to this locus is not enumerated in the available study text. Separately, expression quantitative trait locus (eQTL) data from GTEx v11, based on 953 donors and filtered at FDR < 0.05, show the alternate allele at this locus is associated with increased expression of three nearby genes across skin and lung tissue GTEx Portal.
Reported associations
- Blood or urine biomarkers: detected as an associated locus in a large-scale GWAS of 35 blood and urine biomarkers (n=363,228; Bonferroni-corrected p < 5 x 10-9); the particular biomarker linked to this locus is not specified in the available study text.
- MARVELD3 expression in skin (eQTL): the alternate allele is associated with increased MARVELD3 expression in sun-exposed lower-leg skin (slope +0.52, p=3.1e-5) and in non-sun-exposed suprapubic skin (slope +0.38, p=4.4e-4) GTEx Portal
- PHLPP2 expression in lung (eQTL): the alternate allele is associated with increased PHLPP2 expression in lung tissue (slope +0.44, p=2.5e-5) GTEx Portal
- ZNF23 expression in skin (eQTL): the alternate allele is associated with increased ZNF23 expression in non-sun-exposed suprapubic skin (slope +0.39, p=3.9e-4) GTEx Portal
Evidence quality The UK Biobank biomarker GWAS is a large, well-powered study (n=363,228) applying a stringent significance threshold (Bonferroni-corrected p < 5 x 10-9 for imputed variants). However, the available study text does not report a specific p-value, effect size, or fine-mapping confidence for rs117783250 itself, limiting assessment of this locus's individual support within that study. The GTEx eQTL signals are derived from 953 donors at FDR < 0.05, providing moderate statistical confidence for the tissue-expression findings, though eQTL effects describe changes in gene regulation and should not be interpreted as predictions of clinical outcomes. Overall, the evidence base for this locus is preliminary: it rests on a single GWAS publication and tissue-expression reference data, with no independent replication documented in the available materials.
Tissue-specific expression effects
- MARVELD3: increased expression in sun-exposed lower-leg skin and non-sun-exposed suprapubic skin when the alternate allele is present GTEx Portal
- PHLPP2: increased expression in lung tissue when the alternate allele is present GTEx Portal
- ZNF23: increased expression in non-sun-exposed suprapubic skin when the alternate allele is present GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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personalized cholesterol management strategy Moderate
genetic association with elevated cholesterol warrants discussion of individual risk factors and management.
Screening
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total cholesterol and lipid panel Moderate
rs117783250 C allele is associated with elevated total cholesterol levels.
include lipid panel in routine health screening
Frequently asked questions
What is the TXNL4B gene?
TXNL4B (thioredoxin-like 4B) is the gene at whose chromosomal location rs117783250 is found. A large UK Biobank genome-wide study of blood and urine markers included this locus among the variants it identified.
What traits is rs117783250 linked to?
It was identified in a genetic study of 35 blood and urine biomarkers in over 363,000 UK Biobank participants, though the specific biomarker is not detailed in available study text. GTEx data also show it is associated with increased expression of MARVELD3 in skin, PHLPP2 in lung, and ZNF23 in non-sun-exposed skin.
What is an eQTL and why does it matter for rs117783250?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a nearby gene is expressed in specific tissues. For rs117783250, GTEx data show it increases expression of three genes in skin and lung tissue, pointing to a potential regulatory role, though eQTL effects do not directly indicate disease risk.
Is rs117783250 linked to any specific disease?
The available research associates this locus with blood and urine biomarkers in a large UK Biobank study, but no specific disease diagnosis or drug response annotation is documented in the available materials.
What genes does rs117783250 affect according to GTEx data?
GTEx v11 data from 953 donors show the alternate allele is linked to increased expression of MARVELD3 in sun-exposed and non-sun-exposed skin, PHLPP2 in lung tissue, and ZNF23 in non-sun-exposed skin.