Expressive

rs114304372 (GJA5-GJA8): Large-Scale GWAS Variant

Key takeaways

  • rs114304372 sits near the GJA5 and GJA8 genes and was studied in a GWAS of over 400,000 UK Biobank participants.
  • The analysis used Quickdraws, a newer method that detects more genetic associations than tools like REGENIE and FastGWA.
  • The specific trait linked to this variant is not stated in available study materials.
  • Evidence is preliminary, from a single large-scale study with no variant-specific replication data reported.

Key takeaways

  • rs114304372 sits near the GJA5 and GJA8 genes and was studied in a genome-wide association scan of over 400,000 UK Biobank participants.
  • The analysis used Quickdraws, a newer statistical method that detects more genetic associations than older tools with comparable computing costs.
  • The specific trait or condition linked to this variant is not stated in the available study materials.
  • Evidence is preliminary, from a single large-scale study with no variant-specific replication data reported.

What the research says This variant was studied in a genome-wide association analysis of 405,088 UK Biobank individuals covering 79 quantitative and 50 binary traits, using a method called Quickdraws (a scalable Bayesian regression approach using a spike-and-slab prior, which models the possibility that only a subset of genetic variants have meaningful effects on a trait). Quickdraws was shown to identify 4.97% more quantitative trait associations and 3.25% more binary trait associations than REGENIE, a widely used alternative tool. The available study excerpt does not specify which trait or condition this variant was associated with in the analysis.

Reported associations

  • Unspecified trait (UK Biobank, n=405,088): The source study reports associations across 79 quantitative and 50 binary traits in UK Biobank participants but does not detail the specific trait linked to this variant in the available text.

Evidence quality The single available study involves a large sample of 405,088 UK Biobank individuals, providing substantial statistical power for discovery-level analysis. The Quickdraws method was benchmarked against REGENIE, FastGWA, SAIGE, and BOLT-LMM and demonstrated improved association detection with comparable computational cost. Replicated signals were reported in Biobank Japan and FinnGen cohorts at the overall study level, but no replication data specific to this variant is included in the available excerpt. No p-value, odds ratio, or effect size for rs114304372 is reported in the available text. The evidence for this variant is therefore considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs114304372?

rs114304372 is a genetic variant located near the GJA5 and GJA8 genes. It was identified in a large-scale genome-wide association study of 405,088 UK Biobank participants.

What genes are near rs114304372?

rs114304372 is located near GJA5 and GJA8. The role of these genes in relation to this variant is not described in the available study materials.

How strong is the evidence for rs114304372?

Evidence comes from a single large study of 405,088 UK Biobank individuals. The specific trait it is linked to is not detailed in available materials, so the evidence is considered preliminary.

What method was used to detect rs114304372?

This variant was identified using Quickdraws, a mixed-model genome-wide association method that uses a spike-and-slab prior and variational inference. It detects more associations than methods like REGENIE and FastGWA with comparable computing speed.