rs111784064 (DRD2-TMPRSS5): UK Biobank GWAS Variant

Key takeaways

• rs111784064 is a genetic variant in the DRD2 - TMPRSS5 genomic region
• It was identified in a genome-wide association study (a large-scale scan of genetic variants across the entire genome, known as a GWAS) of approximately 405,000 UK Biobank participants
• The analysis covered 79 quantitative traits and 50 binary disease traits
• Specific trait associations and effect sizes for this variant are not reported in the available study text
• The Quickdraws method used to identify this variant found 4.97% more associations than the REGENIE method for quantitative traits and 3.25% more for binary traits

What the research says rs111784064 was identified through application of the Quickdraws mixed-model association method to approximately 405,088 individuals from the UK Biobank, covering 79 quantitative and 50 binary traits. Quickdraws uses a spike-and-slab prior (a statistical model allowing some variants to carry large effects while most carry none) combined with stochastic variational inference (an efficient algorithm for fitting complex statistical models at scale), achieving 22.71% more associations than FastGWA and 4.97% more than REGENIE for quantitative traits. The specific trait or traits associated with this variant, including effect size and p-value, are not detailed in the available study text.

Reported associations

• DRD2 - TMPRSS5 locus: rs111784064 was identified as an association signal in the UK Biobank GWAS; the specific phenotype it is linked to is not described in the available study text.

Evidence quality The available evidence comes from a single large-scale GWAS of approximately 405,088 UK Biobank participants, a substantial sample size. At the overall study level, the Quickdraws method reports replicated signals in Biobank Japan and FinnGen, but replication of this specific variant in those independent cohorts is not documented in the available text. No p-value, odds ratio, or beta coefficient is provided for rs111784064 individually. The spike-and-slab prior employed by Quickdraws offers greater statistical power than standard fully-polygenic methods, but variant-level quality metrics for this SNP cannot be assessed from the available study text. Evidence is therefore preliminary for this specific variant.

Lifestyle considerations No lifestyle considerations on file for this variant.