Expressive

rs117911546 (EPS15P1-MRPL42P4): Biomarker Variant

Key takeaways

  • rs117911546 lies near two pseudogenes, EPS15P1 and MRPL42P4 - DNA sequences that resemble functional genes but do not produce working proteins
  • This variant was examined in a UK Biobank genome-wide study of more than 363,000 individuals covering 35 blood and urine measurements
  • The parent study identified 1,857 genetic loci associated with at least one biomarker, with over 3,300 fine-mapped associations
  • Specific trait associations and effect sizes for rs117911546 are not detailed in the available study text
  • The broader study validated results in an independent cohort of 135,500 individuals (FinnGen), but specific replication status for this variant is not reported in the available text

Key takeaways

  • rs117911546 lies near two pseudogenes, EPS15P1 and MRPL42P4 - DNA sequences that resemble functional genes but do not produce working proteins
  • This variant was examined in a UK Biobank genome-wide study of more than 363,000 individuals covering 35 blood and urine measurements
  • The parent study identified 1,857 genetic loci associated with at least one biomarker, with over 3,300 fine-mapped associations
  • Specific trait associations and effect sizes for rs117911546 are not detailed in the available study text
  • The broader study validated results in an independent cohort of 135,500 individuals (FinnGen), but specific replication status for this variant is not reported in the available text

What the research says A genome-wide association study of 35 clinical laboratory measurements (blood and urine biomarkers) was conducted in the UK Biobank (n=363,228), testing protein-truncating, protein-altering, and non-coding variants across five population groups, with meta-analysis across 355,891 individuals. The study applied a Bonferroni-corrected significance threshold of p < 5 x 10-9 for imputed variants and identified 1,857 loci associated with at least one biomarker, encompassing 3,374 fine-mapped associations, and over 10,000 significant associations in total. rs117911546, in the EPS15P1 - MRPL42P4 pseudogene region, was among the variants examined, but the specific associated biomarker and effect statistics for this locus are not present in the available study excerpt.

Reported associations

  • Blood or urine biomarker (unspecified): rs117911546 was evaluated within a genome-wide survey of 35 clinical laboratory measurements in 363,228 UK Biobank participants; the specific biomarker, effect direction, and effect size for this variant are not specified in the available study text.

Evidence quality The parent study is large and well-powered, with 363,228 UK Biobank participants in the discovery phase and 135,500 FinnGen participants in replication. Stringent multiple-testing correction was applied across more than 9 million imputed variants. Fine-mapping was performed to help distinguish likely causal variants from those that co-occur due to shared inheritance patterns (linkage disequilibrium - the tendency of nearby DNA segments to be inherited together). Because the specific association statistics for rs117911546 are not present in the provided study excerpt, the evidence quality for this particular variant cannot be fully characterized from available text. The surrounding region consists of pseudogenes rather than protein-coding sequences, which adds interpretive complexity to any functional inference drawn from this locus.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117911546?

rs117911546 is a single nucleotide polymorphism - a single-letter change in the DNA sequence - located near two pseudogenes called EPS15P1 and MRPL42P4. Pseudogenes are stretches of DNA that resemble functional genes but do not produce working proteins in the usual sense.

What are EPS15P1 and MRPL42P4?

EPS15P1 and MRPL42P4 are pseudogenes - DNA sequences structurally similar to functional genes but not typically expected to produce working proteins. They sit in the genomic region near rs117911546.

Is rs117911546 linked to any health conditions?

This variant was captured in a large UK Biobank genome-wide study of 35 blood and urine biomarkers, but the specific trait association for rs117911546 is not detailed in the available study text. No confirmed health association can be described from the provided evidence.

How large was the study that evaluated rs117911546?

The UK Biobank biomarker study involved 363,228 individuals in the discovery phase and 135,500 individuals in replication (FinnGen). It examined 35 clinical laboratory measurements and identified 1,857 associated genetic loci with over 3,300 fine-mapped associations.

What does it mean that this variant is in a pseudogene region?

Pseudogenes are DNA sequences that resemble functional genes but do not typically produce working proteins. Variants in or near pseudogene regions may still influence nearby gene activity, but interpreting their biological effects is generally more complex than for variants within protein-coding gene regions.