rs115065904 (KIAA0319): Blood Biomarker GWAS

Key takeaways

• rs115065904 is a genetic variant located in or near KIAA0319 that was identified in a large genome-wide study of blood and urine laboratory measurements.
• The study behind this finding examined over 363,000 UK Biobank participants across 35 biomarkers, making it one of the largest biomarker genetics analyses published.
• This variant is one of 1,857 loci identified across 35 blood and urine tests; fine-mapping further resolved 3,374 distinct association signals within those loci.
• The evidence comes from a single large study; independent replication for this specific variant is not described in the available study text.
• No drug-response or lifestyle interaction data are currently available for this variant.

What the research says A genome-wide association study (GWAS, meaning a scan of millions of DNA positions across the genome) of 35 blood and urine biomarkers in the UK Biobank (n=363,228 participants) identified 1,857 loci associated with at least one biomarker, with fine-mapping resolving 3,374 independent association signals across those loci. The study applied a Bonferroni-corrected significance threshold (a stringent statistical cutoff that adjusts for testing many variants at once) of p < 5 x 10^-9 and performed multi-population meta-analysis across White British, non-British White, African, South Asian, and East Asian participants. The variant rs115065904, in the KIAA0319 locus, is among the associations reported in the full dataset from this study; specific trait and effect-size details for this variant are contained in the study's supplementary tables, which are not fully reproduced in the available text excerpt.

Reported associations

• Blood or urine biomarker: rs115065904 at the KIAA0319 locus was identified in a GWAS of 35 blood and urine laboratory measurements across 363,228 UK Biobank individuals. The precise biomarker trait and effect size are documented in the study's supplementary data, which is not reproduced in the available excerpt.

Evidence quality The source study is a large, well-powered GWAS with n=363,228 UK Biobank participants, and findings were further evaluated in an independent Finnish cohort (FinnGen, n=135,500). Stringent Bonferroni-corrected significance thresholds (p < 5 x 10^-9 for assayed and imputed variants) were applied, and fine-mapping was used to distinguish independent signals within each locus. Multi-population meta-analysis across five ancestry groups strengthens generalizability relative to single-ancestry designs. However, the specific effect size, direction, and trait association for rs115065904 individually cannot be characterized from the provided study excerpt, and variant-level replication status for this locus is not stated in the available text. Confidence in the overall study methodology is high, but claims specific to this variant remain preliminary pending access to full supplementary data.

Lifestyle considerations No lifestyle considerations on file for this variant.