Expressive

rs116839452 (KCNN3): Blood Biomarker Variant

Key takeaways

  • rs116839452 is a variant in or near the KCNN3 gene (Potassium Calcium-activated Channel Subfamily N Member 3)
  • It was identified in a UK Biobank study covering 35 blood and urine biomarkers in 363,228 individuals
  • The broader study found 1,857 genetic loci associated with biomarker levels, using stringent statistical thresholds
  • Effect sizes were cross-checked against 42 other published cohorts, showing high consistency across studies

Key takeaways

  • rs116839452 is a variant in or near the KCNN3 gene (Potassium Calcium-activated Channel Subfamily N Member 3)
  • It was identified in a UK Biobank study covering 35 blood and urine biomarkers in 363,228 individuals
  • The broader study found 1,857 genetic loci associated with biomarker levels, using stringent statistical thresholds
  • Effect sizes from this study were cross-checked against 42 other published cohorts, showing high consistency across studies

What the research says rs116839452 is a genetic variant in or near the KCNN3 gene and was catalogued in a genome-wide association study (GWAS - a systematic scan of the genome for variants linked to a trait) of 35 blood and urine clinical laboratory biomarkers measured in 363,228 individuals from the UK Biobank. That study identified 1,857 loci significantly associated with at least one of the 35 measured biomarkers, fine-mapped to 3,374 specific variant-level associations, and additionally characterized protein-altering, HLA allele (variants in genes involved in immune response), and copy-number variant associations. Effect sizes were cross-validated against 42 previously published cohorts for 25 of the biomarkers, with high overall agreement.

Reported associations

  • Blood and urine biomarker (specific trait not detailed in available study excerpt): rs116839452 was identified in a GWAS of 35 commonly measured clinical laboratory values in 363,228 UK Biobank participants; the specific associated biomarker and its effect size are documented in the study's full dataset

Evidence quality The source study is a large-scale GWAS published in Nature Genetics in 2021, using UK Biobank data (n=363,228). It applied Bonferroni-corrected significance thresholds (p < 5 x 10-9 for assayed and imputed variants, p < 1 x 10-6 for non-rare copy-number variants) and analyzed five population groups: White British (n=318,953), non-British White (n=23,582), African (n=6,019), South Asian (n=7,338), and East Asian (n=1,082), with a meta-analysis of all but the East Asian group (n=355,891). Linkage disequilibrium score intercepts ranged from 0.999 to 1.137 across all phenotypes, indicating well-controlled population stratification - meaning results are unlikely to reflect ancestry differences rather than true genetic associations. The specific p-value, effect size, and replication data for rs116839452 are not present in the available study excerpt.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs116839452?

rs116839452 is a single-nucleotide polymorphism, meaning a one-letter variation in the DNA sequence, located in or near the KCNN3 gene. It was identified in a large genetic study of blood and urine laboratory measurements.

What does the KCNN3 gene do?

KCNN3, short for Potassium Calcium-activated Channel Subfamily N Member 3, encodes a protein that forms an ion channel controlling the flow of potassium in and out of cells in response to calcium signals.

Which blood test is rs116839452 linked to?

The variant was identified in a study covering 35 different blood and urine biomarkers measured in the UK Biobank. The specific laboratory measurement associated with rs116839452 is documented in the study's full dataset.

How large was the study that identified this variant?

The study analyzed 363,228 individuals from the UK Biobank across five ancestral population groups and identified 1,857 genetic loci and 3,374 fine-mapped associations across the 35 biomarkers tested.

Is rs116839452 associated with any disease?

The source study focused on blood and urine biomarker levels rather than disease diagnoses directly. The broader study used Mendelian Randomization to identify 51 causal links between biomarkers and 40 medical conditions, but specific disease findings for rs116839452 are not detailed in the available text.