Expressive

rs114523982 (FAM169A-AS1): Blood Biomarker GWAS Locus

Key takeaways

  • rs114523982 was identified in a genome-wide study of 35 blood and urine biomarkers covering over 363,000 people
  • The variant sits near FAM169A-AS1, a long non-coding RNA (a gene that produces RNA but not protein), and RPL27AP5, a non-functional gene copy called a pseudogene
  • The study applied strict statistical thresholds, reducing the risk that this is a chance finding
  • The specific blood or urine test trait linked to this variant is not detailed in the available study excerpt

Key takeaways

  • rs114523982 was identified in a genome-wide study of 35 blood and urine biomarkers covering over 363,000 people
  • The variant sits near FAM169A-AS1, a long non-coding RNA (a gene that produces RNA but not protein), and RPL27AP5, a non-functional gene copy called a pseudogene
  • The study applied strict statistical thresholds, reducing the risk that this is a chance finding
  • The specific blood or urine test trait linked to this variant is not detailed in the available study excerpt

What the research says A genome-wide association study (GWAS) of 35 blood and urine biomarkers across 363,228 UK Biobank participants identified 1,857 genomic loci containing 3,374 fine-mapped associations; rs114523982 at the FAM169A-AS1 / RPL27AP5 region was among those detected. Results were meta-analyzed across White British (n=318,953), non-British White (n=23,582), South Asian (n=7,338), and African (n=6,019) ancestry groups using a Bonferroni-corrected significance threshold of p < 5 x 10^-9 for imputed variants. Heritability estimates across the 35 biomarkers spanned from 0.6% (lipoprotein a) to 23.9% (IGF-1) by LD Score regression, illustrating how widely the genetic contribution to a blood measurement can vary.

Reported associations

  • Unspecified blood or urine biomarker: rs114523982 was listed as one of 1,857 loci associated with at least one of 35 blood or urine biomarkers in a UK Biobank GWAS (n=363,228); the specific trait and effect size for this variant are not enumerated in the available study excerpt

Evidence quality The association originates from a single, large, well-powered study (n=363,228) with multi-ancestry meta-analysis and a rigorous Bonferroni-corrected significance threshold (p < 5 x 10^-9). These design features substantially lower false-positive risk, and LD Score intercepts between 0.999 and 1.137 across all 35 phenotypes indicate that population stratification was well-controlled. The locus encompasses two non-coding elements -- FAM169A-AS1 (a long non-coding RNA) and RPL27AP5 (a pseudogene) -- which are harder to interpret functionally than protein-coding variants. The provided study text does not report an effect size or independent replication result specific to rs114523982, so the full characterization of this variant should be considered preliminary pending review of the complete publication.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is FAM169A-AS1?

FAM169A-AS1 is a long non-coding RNA, meaning it is a stretch of DNA that is transcribed into RNA but does not produce a protein. Long non-coding RNAs are thought to regulate nearby genes, though many remain poorly characterized.

What is RPL27AP5?

RPL27AP5 is a pseudogene, a DNA sequence that resembles a real gene (in this case the ribosomal protein L27a gene) but has accumulated mutations that prevent it from producing a working protein.

Which blood or urine test is rs114523982 associated with?

The variant was detected in a large study of 35 blood and urine biomarkers, but the specific test it is most strongly linked to is not stated in the available study excerpt. Consulting the full publication is needed to identify that association.

How large was the study that found rs114523982?

The UK Biobank genome-wide association study included 363,228 individuals across five ancestry groups and tested associations with 35 commonly measured blood and urine biomarkers.

Is the rs114523982 finding considered reliable?

The discovery study had a very large sample and applied strict statistical thresholds, which reduces the risk of a spurious finding. However, independent replication data for this specific variant are not reported in the available text, so its full characterization should be treated as preliminary.