Expressive

rs116344400 (REG3A-CTNNA2): UK Biobank GWAS locus

Key takeaways

  • rs116344400 sits in the genomic region flanked by the REG3A and CTNNA2 genes.
  • It was identified as a significant signal in a GWAS of 405,088 UK Biobank participants.
  • The study used Quickdraws, a method that combines machine learning with Bayesian statistics to detect more genetic associations than previous tools.
  • The specific trait or phenotype linked to this variant is not detailed in the available study text.
  • Evidence for this variant is preliminary; no effect size, p-value, or replication data are described in the available source.

Key takeaways

  • rs116344400 sits in the genomic region flanked by the REG3A and CTNNA2 genes.
  • It was identified as a significant signal in a genome-wide association study (GWAS) of 405,088 UK Biobank participants.
  • The study used Quickdraws, a method that combines machine learning with Bayesian statistics to detect more genetic associations than previous tools.
  • The specific trait or phenotype linked to this variant is not detailed in the available study text.
  • Evidence for this variant is preliminary; no effect size, p-value, or replication data for this specific signal are described in the available source.

What the research says rs116344400 was surfaced as a GWAS signal in a scan of 405,088 UK Biobank individuals covering 79 quantitative traits -- measurable biological quantities such as blood pressure or enzyme levels -- and 50 binary traits, which are conditions classified as present or absent, such as diseases. The analysis used Quickdraws, an algorithm applying a spike-and-slab prior -- a statistical model that allows some variant effects to be treated as exactly zero while others receive nonzero estimates, improving detection of true associations -- and identified 4.97% more quantitative-trait associations and 3.25% more binary-trait associations than REGENIE, a widely used GWAS software, on the same dataset. The particular phenotype driving the rs116344400 signal is not specified in the available text of this study.

Reported associations

  • GWAS signal, UK Biobank (n = 405,088): rs116344400 was detected as an association in a scan spanning 79 quantitative and 50 binary traits; the specific phenotype driving the signal is not identified in the available study excerpt.

Evidence quality The sole source available for this entry is a methodological paper evaluating the Quickdraws GWAS algorithm, applied to UK Biobank data (n = 405,088). No PubMed ID was provided with this study, so inline citation links cannot be included. The available study text does not describe the phenotypic association, effect size, p-value, or replication status for rs116344400 specifically. The paper does report that Quickdraws-identified signals showed similar replication gains in Biobank Japan and FinnGen relative to competing methods, suggesting the algorithm surfaces genuine signals overall, but this cannot be confirmed specifically for this variant from the available excerpt. Evidence for this variant should be considered very preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs116344400?

rs116344400 is a single-nucleotide polymorphism (SNP) -- a single-letter change in the DNA code -- located in the genomic region near the REG3A and CTNNA2 genes. It was flagged as a signal in a large-scale genetic scan of UK Biobank participants.

What genes are near rs116344400?

The variant is positioned near REG3A and CTNNA2, which serve as the flanking gene markers used to name this genomic region. The available research does not describe the specific functional relationship between this variant and either gene.

What trait or condition is rs116344400 associated with?

The available research does not specify which trait or condition rs116344400 is linked to. It was detected in a scan covering 79 quantitative and 50 binary traits in UK Biobank participants, but the specific phenotype driving the signal is not described in the available study text.

How strong is the evidence for rs116344400?

The evidence comes from a single large study of 405,088 UK Biobank participants. No effect size, p-value, or independent replication data for this specific variant are described in the available text, so its significance should be considered preliminary.

What is the Quickdraws method that identified rs116344400?

Quickdraws is a machine-learning-enhanced GWAS algorithm that uses a spike-and-slab statistical prior and stochastic variational inference to detect more genetic associations than older methods while remaining computationally efficient. On the same UK Biobank dataset, it found 4.97% more quantitative-trait associations than REGENIE and up to 22.71% more than FastGWA, another widely used tool.