rs112767900 (PDE3A): Blood Biomarker Variant

Key takeaways

  • rs112767900 is located at the PDE3A locus and was identified in a major UK Biobank genome-wide biomarker study.
  • The source study screened 363,228 individuals across 35 blood and urine measurements at a stringent significance threshold.
  • Fine-mapping was applied across 1,857 loci, narrowing down 3,374 candidate causal variants.
  • Specific trait associations and effect sizes for rs112767900 are not available in the provided study text.

Key takeaways

  • rs112767900 is a genetic variant at the PDE3A locus, identified in a large genome-wide study of blood and urine biomarkers.
  • The source study analyzed 363,228 UK Biobank participants across 35 blood and urine measurements, applying a stringent significance threshold of p < 5 x 10^-9.
  • Fine-mapping was performed across 1,857 associated loci, yielding 3,374 candidate causal variants.
  • Specific trait associations and effect sizes for rs112767900 are not detailed in the available study text.

What the research says rs112767900 is located in the PDE3A gene region and was captured in a large genome-wide association study (GWAS, a method that scans millions of genomic positions to find variants statistically linked to a trait) of 35 blood and urine biomarkers in 363,228 unrelated UK Biobank participants. The study identified 1,857 loci associated with at least one biomarker and produced 3,374 fine-mapped associations (refined estimates of the most likely causal variant at each genomic signal), with protein-truncating, protein-altering, and non-coding variants all evaluated. The specific biomarker(s) linked to rs112767900 and its associated effect size are not named in the provided study excerpt, so those details cannot be reported without exceeding the available source material.

Reported associations

  • Blood or urine biomarker (specific trait not identified in provided text): rs112767900 at the PDE3A locus was identified in the context of a GWAS of 35 biomarkers in UK Biobank (n=363,228); the specific associated measurement is not named in the available excerpt.

Evidence quality The study providing context for rs112767900 is a large, well-powered GWAS with 363,228 UK Biobank participants analyzed across five population groups (White British, non-British White, African, South Asian, and East Asian), improving generalizability. A stringent Bonferroni-corrected threshold of p < 5 x 10^-9 was applied, and polygenic risk score models were replicated in an independent dataset (FinnGen; n=135,500). However, the provided excerpt does not include variant-level results for rs112767900 specifically, so its individual association strength, effect size, and replication status cannot be assessed from the available text alone. This limits the strength of any conclusions about this particular locus.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs112767900?

rs112767900 is a single nucleotide polymorphism (a common type of single-letter DNA variation) located in or near the PDE3A gene. It was identified in a large genome-wide study of blood and urine biomarkers conducted in the UK Biobank.

What blood test is rs112767900 linked to?

The source study covered 35 blood and urine biomarkers, but the specific measurement associated with rs112767900 is not identified in the available study text. The variant falls within the PDE3A locus and was detected at genome-wide significance thresholds.

How large was the study that found rs112767900?

The study included 363,228 unrelated individuals from the UK Biobank, with polygenic risk score replication in an additional 135,500 participants from the FinnGen dataset.

What statistical standard was used to confirm this finding?

The study applied a Bonferroni-corrected significance threshold of p < 5 x 10^-9 for common and imputed genetic variants, a stringent standard designed to minimize false positives in genome-wide analyses.

Is rs112767900 associated with any disease?

The available study text does not report a direct disease association for rs112767900. The study was focused on blood and urine biomarker measurements, though it also performed Mendelian Randomization analyses to explore causal relationships between biomarkers and 40 medically relevant phenotypes.