rs116509635 (DNAJC6): UK Biobank Biomarker GWAS

Key takeaways

• rs116509635 is a genetic variant in or near the DNAJC6 gene, identified within a large genome-wide study of 35 blood and urine biomarkers in 363,228 UK Biobank participants.
• The source study found 1,857 significant genomic loci containing 3,374 fine-mapped associations across the 35 biomarkers screened.
• The specific biomarker trait and effect size linked to this variant are not reported in the available study text excerpt.
• Evidence comes from a single large population-based study; independent replication status for this locus is not described in the available text.

What the research says A genome-wide association study (GWAS - a method that screens hundreds of thousands of genetic variants simultaneously) of 35 blood and urine biomarkers in the UK Biobank analyzed 363,228 individuals across five population groups, with a meta-analysis (a combined statistical analysis across groups) sample of 355,891. The study applied a stringent Bonferroni-corrected significance threshold of p < 5 x 10-9 for imputed variants and found that common SNPs (single nucleotide polymorphisms, the class of variant to which rs116509635 belongs) explained between 0.6% and 23.9% of trait heritability depending on the biomarker - ranging from low (Lipoprotein A) to substantial (IGF-1). Results were validated against 42 previously published cohorts for 25 of the 35 biomarkers, showing high overall agreement. The available study text excerpt does not specify which of the 35 biomarkers rs116509635 is associated with, nor the effect size at this locus.

Reported associations

• Blood or urine biomarker (specific trait not detailed in available text): rs116509635, located in the DNAJC6 gene region, appears among loci identified in this large UK Biobank biomarker GWAS; the associated trait and effect size are not reported in the available study text excerpt.

Evidence quality The source study is a large, well-powered GWAS (n=355,891 to 363,228) with documented population stratification controls - LD Score regression intercepts (a measure of population structure inflation) fell between 0.999 and 1.137 for all 35 phenotypes, consistent with well-controlled analyses of similar anthropometric traits. The stringent significance threshold (Bonferroni-corrected p < 5 x 10-9) reduces the risk of false-positive findings. External validation against 42 cohorts for 25 biomarkers supports the reliability of the overall methodology. However, the specific evidence for rs116509635 - its associated biomarker, effect size, and replication status - is not available in the provided text excerpt, limiting the ability to characterize evidence quality for this particular variant. Evidence for this locus is therefore considered preliminary pending access to the full study results.

Lifestyle considerations No lifestyle considerations on file for this variant.