rs114863150 (SPEF2-IL7R): UK Biobank GWAS Locus

Key takeaways

• rs114863150 sits in the intergenic region between SPEF2 (sperm flagella 2) and IL7R (interleukin 7 receptor)
• This variant was analyzed in a genome-wide association study (GWAS) of 405,088 UK Biobank participants covering 13.3 million variants
• The study used Quickdraws, a machine learning-enhanced GWAS method that detects up to 22.71% more associations than conventional tools
• Specific trait associations and effect sizes for rs114863150 are not detailed in the available study text, so findings should be treated as preliminary
• No lifestyle considerations are on file for this variant

What the research says rs114863150 is in the genomic region flanked by SPEF2 (sperm flagella 2) and IL7R (interleukin 7 receptor). It was included in a large-scale GWAS of 405,088 UK Biobank participants that analyzed 13.3 million variants across 79 quantitative and 50 binary traits using a method called Quickdraws, which applies a spike-and-slab prior (a Bayesian statistical model that explicitly assumes most variants have zero effect on a given trait, rather than infinitesimally small effects) and stochastic variational inference (a machine learning optimization technique) to increase the power to detect true associations. The specific phenotypic associations and effect sizes for this particular variant are not reported in the available study text.

Reported associations

• UK Biobank quantitative and binary traits: This variant was among 13.3 million variants analyzed in 405,088 UK Biobank individuals across 79 quantitative and 50 binary traits; which specific traits were associated with rs114863150 and at what effect size are not detailed in the available study text

Evidence quality The source study enrolled approximately 405,000 UK Biobank participants, representing a large-scale GWAS by current standards. The Quickdraws method identified 4.97% more associations than REGENIE and 22.71% more than FastGWA for quantitative traits, with gains of 3.25% and 7.07% respectively for binary disease traits. Replicated signals in Biobank Japan and FinnGen were reported for the overall set of novel associations, though replication status specific to rs114863150 cannot be confirmed from the available text. No p-values, odds ratios, or beta coefficients for this variant are reported in the provided text. The evidence for this specific variant must therefore be considered preliminary pending access to the full results.

Lifestyle considerations No lifestyle considerations on file for this variant.