Expressive

rs111770456 (RSPO3): Biomarker genetics variant

Key takeaways

  • rs111770456 sits near the RSPO3 gene and was found in a large study of blood and urine markers in over 363,000 people.
  • The study identified 1,857 genomic loci tied to 35 different laboratory test measurements.
  • This UK Biobank study spanned five population groups and applied stringent statistical thresholds to reduce false positives.
  • Specific biomarker and effect size details for this variant are not available in the current study text.

Key takeaways

  • rs111770456 is located in the genomic region near RPS4XP9 (a pseudogene) and RSPO3, identified in a large genome-wide study of blood and urine biomarkers.
  • The study that identified this locus analyzed over 363,000 UK Biobank participants across five population groups.
  • The broader study found 1,857 genomic loci associated with 35 blood and urine biomarkers, with 3,374 fine-mapped associations in total.
  • Evidence for this variant comes from a single large GWAS; the specific biomarker association details for rs111770456 are not described in the available study text.

What the research says rs111770456 falls in the RPS4XP9 - RSPO3 genomic region and was captured within a genome-wide association study (GWAS - a large population scan linking genetic variants to measurable traits) of 35 blood and urine biomarkers by Sinnott-Armstrong et al. (2021) in the UK Biobank cohort (n=363,228 individuals). That study identified 1,857 loci associated with at least one of the 35 measured biomarkers, with 3,374 fine-mapped associations, using a Bonferroni-corrected significance threshold of p < 5 x 10^-9 across a meta-analysis of five population groups.

Reported associations

  • Blood or urine biomarker (specific trait not described in available study text): This locus was among the 1,857 identified in the GWAS of 35 blood and urine laboratory measurements in 363,228 UK Biobank participants (Sinnott-Armstrong et al., 2021). The particular biomarker associated with rs111770456 is not named in the available study text.

Evidence quality The source study (Sinnott-Armstrong et al., 2021, Nature Genetics) is a large-scale GWAS with n=363,228 individuals, among the most comprehensive biomarker genetics analyses published to date. It applied a stringent significance threshold (Bonferroni-corrected meta-analysis p < 5 x 10^-9 for assayed and imputed variants). Analysis spanned five population groups: White British (n=318,953), non-British White (n=23,582), African (n=6,019), South Asian (n=7,338), and East Asian (n=1,082). LD Score regression intercepts between 0.999 and 1.137 across all 35 phenotypes suggest population structure was well-controlled. The specific association for this locus, including which biomarker is affected, its effect size, and p-value, is not provided in the available study text. No conflicting findings are reported for this variant.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs111770456?

rs111770456 is a genetic variant located near the RPS4XP9 pseudogene and the RSPO3 gene. It was identified in a large genome-wide association study of blood and urine biomarkers in over 363,000 UK Biobank participants.

What is the RSPO3 gene?

RSPO3 is a gene near the rs111770456 variant. The study that identified this locus was a broad biomarker genetics analysis and does not describe the specific biological function of RSPO3 in the available text.

How was rs111770456 discovered?

It was identified in a genome-wide association study of 35 blood and urine biomarkers in the UK Biobank, which included over 363,000 individuals across five population groups including White British, African, and South Asian ancestries.

Is rs111770456 linked to any diseases?

The source study focused on blood and urine biomarker levels rather than direct disease diagnoses. The study did perform Mendelian Randomization analyses evaluating causal links between biomarkers and 40 diseases, but specific findings for this locus are not detailed in the available text.

What does RPS4XP9 mean in the variant name?

RPS4XP9 is a pseudogene, meaning it resembles a functional gene but does not produce a working protein. It is listed alongside RSPO3 to indicate the genomic neighborhood where rs111770456 is located.