Expressive

rs117643757 (EGR2): Blood Biomarker GWAS Variant

Key takeaways

  • rs117643757 sits near the EGR2 gene and the RNU6-543P pseudogene
  • It was catalogued in a genome-wide study of 363,228 UK Biobank participants across five population groups
  • The source study used a stringent p < 5 x 10^-9 threshold, setting a high bar for its reported associations
  • Specific trait associations and effect sizes for this variant are not detailed in the available study excerpt
  • No lifestyle considerations are on record for this variant from the provided evidence

Key takeaways

  • rs117643757 sits near the EGR2 gene and the RNU6-543P pseudogene
  • This variant was catalogued in a large genome-wide study of 35 blood and urine biomarkers in the UK Biobank, covering 363,228 individuals
  • The parent study applied a stringent Bonferroni-corrected threshold of p < 5 x 10^-9, a high statistical bar for declaring associations
  • Specific trait associations and effect sizes for rs117643757 are not reported in the available study excerpt
  • No lifestyle considerations are on record for this variant in the provided evidence

What the research says A genome-wide association study of 35 blood and urine biomarkers in the UK Biobank (n=363,228 across five population groups) identified 1,857 loci containing 3,374 fine-mapped associations; rs117643757, near the EGR2 gene and RNU6-543P pseudogene, falls within the scope of this analysis. Statistical significance required a Bonferroni-corrected p < 5 x 10^-9 for assayed and imputed autosomal variants, and the meta-analysis combined four population groups (White British, non-British White, African, and South Asian; n=355,891). Polygenic risk scores derived from the study improved genetic risk stratification for chronic kidney disease, type 2 diabetes, gout, and alcoholic cirrhosis when validated in an independent FinnGen cohort (n=135,500).

Reported associations

  • Blood or urine biomarker (specific trait not named in available study excerpt): rs117643757 falls within a genome-wide scan of 35 blood and urine biomarker traits; the particular biomarker(s) linked to this locus are not specified in the provided text

Evidence quality Evidence for rs117643757 derives from a single large genome-wide association study (UK Biobank discovery n=363,228; meta-analysis n=355,891) with risk-score validation in FinnGen (n=135,500). LD Score regression intercepts across the 35 study phenotypes ranged from 0.999 to 1.137, indicating well-controlled population stratification. The study applied a Bonferroni-corrected threshold of p < 5 x 10^-9 for imputed and assayed autosomal variants, setting a low false-positive rate. However, the specific associated trait, effect direction, and effect size for this variant are not described in the available study text, and no independent replication or conflicting findings were included in the provided materials.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117643757?

rs117643757 is a genetic variant located near the EGR2 gene and the RNU6-543P pseudogene. It was catalogued in a genome-wide study of blood and urine biomarkers conducted in the UK Biobank with 363,228 participants.

What gene is rs117643757 near?

This variant sits near EGR2 and RNU6-543P, a pseudogene on the same genomic locus.

What study identified rs117643757?

The variant was identified in a genome-wide association study of 35 blood and urine biomarkers in the UK Biobank, analyzing 363,228 individuals across five population groups with a Bonferroni-corrected significance threshold of p < 5 x 10^-9.

Is rs117643757 associated with any specific disease or lab test?

The source study covered 35 blood and urine biomarker traits. Specific trait associations for this variant are not detailed in the available study excerpt.

How reliable is the evidence for rs117643757?

Evidence comes from a single large study using a stringent p < 5 x 10^-9 statistical threshold with well-controlled population stratification. Variant-specific trait and effect-size data are not available in the current evidence base.