Expressive

rs117863403 (COLEC10): Blood Biomarker Variant

Key takeaways

  • rs117863403 is located in or near the COLEC10 gene and was identified as a genome-wide significant locus in a study of 363,228 UK Biobank participants examining 35 blood and urine biomarkers
  • This variant is one of 3,374 fine-mapped associations drawn from 1,857 significant loci identified across the genome in the same analysis
  • The study applied strict Bonferroni-corrected significance thresholds (meta-analysis p < 5 x 10^-9) and included participants from five ethnic groups
  • The specific biomarker most strongly tagged by this locus is not named in the available study text

Key takeaways

  • rs117863403 is located in or near the COLEC10 gene and was identified as a genome-wide significant locus in a study of 363,228 UK Biobank participants examining 35 blood and urine biomarkers
  • This variant is one of 3,374 fine-mapped associations drawn from 1,857 significant loci identified across the genome in the same analysis
  • The study applied strict Bonferroni-corrected significance thresholds (meta-analysis p < 5 x 10^-9) and included participants from five ethnic groups
  • The specific biomarker most strongly tagged by this locus is not named in the available study text

What the research says A genome-wide association study of 363,228 unrelated UK Biobank participants examined the genetic basis of 35 blood and urine biomarkers and identified 1,857 loci containing 3,374 fine-mapped associations. rs117863403, located in or near the COLEC10 (Collectin Sub-Family Member 10) gene, is among the significant loci captured in this analysis. The meta-analysis spanned White British (n=318,953), non-British White (n=23,582), African (n=6,019), and South Asian (n=7,338) participants, with Bonferroni-corrected thresholds (meta-analysis p < 5 x 10^-9) applied across assayed and imputed variants.

Reported associations

  • Blood or urine biomarker level (trait unspecified in available text): rs117863403 in the COLEC10 gene region was identified as one of 3,374 fine-mapped associations across 1,857 loci that each reached genome-wide significance for at least one of 35 blood or urine biomarkers in 363,228 UK Biobank participants; the exact biomarker associated with this locus is not specified in the provided study excerpt

Evidence quality The identification of rs117863403 rests on a large-scale GWAS (n=363,228) applying strict Bonferroni-corrected p-value thresholds across multi-ethnic populations. LD Score regression intercepts ranged from 0.999 to 1.137 across all 35 phenotypes, indicating well-controlled population stratification. Polygenic risk scores derived from this analysis were independently validated in FinnGen (n=135,500), supporting the robustness of the overall analytical framework. The specific effect size for rs117863403, the exact biomarker it tags, and independent replication for this locus specifically are not reported in the available excerpt.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117863403?

rs117863403 is a genetic variant located in or near the COLEC10 gene. It was flagged as genome-wide significant in a large study examining the genetics of 35 blood and urine biomarkers across more than 363,000 UK Biobank participants.

What does the COLEC10 gene do?

COLEC10 encodes Collectin Sub-Family Member 10, a protein belonging to the collectin family. Collectins are involved in innate immune defense. The available study text does not describe the mechanism by which COLEC10 influences the specific blood or urine biomarker linked to rs117863403.

Is rs117863403 associated with any disease?

The study that identified rs117863403 focused on blood and urine biomarker levels rather than disease outcomes directly. The broader analysis did use Mendelian Randomization to identify 51 causal relationships between biomarkers and diseases, but no specific disease claim for this locus appears in the available text.

How large was the study that identified this variant?

The UK Biobank biomarker GWAS included 363,228 unrelated individuals spanning five ethnic groups. An independent cohort, FinnGen (n=135,500), was used to validate polygenic risk scores derived from the same analysis.

How reliable is the evidence for rs117863403?

The association passed a Bonferroni-corrected threshold of p < 5 x 10^-9 in a multi-ethnic meta-analysis with LD Score regression intercepts between 0.999 and 1.137, indicating well-controlled population stratification. The specific effect size and independent replication for this exact locus are not described in the available text.