rs11709625 (KBTBD8): GWAS-studied genetic variant

Key takeaways

• rs11709625, at the RPL21P41 - KBTBD8 locus, appears in large-scale genome-wide association studies (GWAS) that together span hundreds of thousands of participants.
• One source study covered 2,068 traits in 635,969 participants from African, Admixed American, East Asian, and European genetic background groups, documenting the gains in variant discovery from including diverse populations.
• A second source study identified 89 genome-wide significant associations for hematological (blood cell) and biochemical (metabolic chemistry) traits in approximately 14,700 Japanese individuals, with 46 of those being newly reported.
• Including participants from non-European genetic backgrounds added 3,477 associations that a European-only analysis would have missed.

What the research says The two studies providing context for this locus cover a broad scope of traits and populations. A multi-population analysis through the VA Million Veteran Program (MVP) examined 635,969 participants from four genetic background groups and identified 26,049 variant-trait associations across 1,270 traits; 3,477 of those became significant only after including non-European participants. A GWAS of approximately 14,700 Japanese individuals found 60 genome-wide significant (P < 5 x 10^-8) associations for 8 hematological traits and 29 for 12 biochemical traits, with 46 of those associations being previously unreported. Specific association statistics for this variant are not reproduced in the available study text.

Reported associations

• Multi-trait phenome-wide scope: This locus falls within the coverage of the MVP analysis, which examined 2,068 traits derived from electronic health records across four genetic ancestry groups.
• Hematological and biochemical traits: This locus falls within the scope of a Japanese-population study that found 89 genome-wide significant associations across 8 hematological and 12 biochemical trait categories; specific effect sizes for this variant are not available in the provided study excerpts.

Evidence quality The two source studies are large and methodologically rigorous. The MVP analysis involved 635,969 participants and applied multi-population statistical fine-mapping, a technique that narrows down which specific variant within a region most likely drives an association, achieving high-confidence single-variant resolution at 15,045 of 57,601 independent signals. The Kamatani et al. study used a genome-wide significance threshold of P < 5 x 10^-8 in roughly 14,700 individuals and replicated 32 of 34 (94.1%) previously reported European hematological loci among variants with minor allele frequency (MAF, the proportion of individuals carrying the less common DNA letter) above 10%. No conflicting findings between the two studies are described in the available text. Because specific p-values and effect sizes for this variant are not reproduced in the provided study text, the depth of this evidence quality assessment is limited.

Lifestyle considerations No lifestyle considerations on file for this variant.