Expressive

rs114533012 (FAM169A-AS1): Arterial gene expression

Key takeaways

  • Identified in a genome-wide study of 35 blood and urine biomarkers in 363,228 UK Biobank participants
  • The alternate allele reduces expression of GCNT4 in the aorta and tibial artery
  • The alternate allele increases expression of POC5 in the spleen and thyroid
  • The alternate allele increases expression of ANKDD1B in the aorta
  • Evidence comes from one large study; the specific biomarker linked to this variant is not described in available text

Key takeaways

  • Identified in a genome-wide study of 35 blood and urine biomarkers in 363,228 UK Biobank participants
  • The alternate allele reduces expression of GCNT4 in the aorta and tibial artery
  • The alternate allele increases expression of POC5 in the spleen and thyroid
  • The alternate allele increases expression of ANKDD1B in the aorta
  • Evidence comes from one large study; the specific biomarker linked to this variant is not described in the available study text

What the research says This variant is located in the FAM169A-AS1 - RPL27AP5 locus. It was identified as one of 1,857 genome-wide significant loci in a systematic analysis of 35 blood and urine biomarkers measured in 363,228 unrelated UK Biobank participants, using Bonferroni-corrected p < 5 x 10^-9 as the significance threshold for imputed variants. Tissue-specific expression data show that the alternate allele is associated with expression changes in three nearby genes across multiple tissue types, including arterial, immune, and endocrine tissues GTEx Portal.

Reported associations

  • Blood and urine biomarkers: This locus was one of 1,857 genome-wide significant loci identified in a multi-biomarker GWAS spanning 35 clinical laboratory measurements in 363,228 UK Biobank individuals; the precise biomarker trait linked to this locus is not specified in the provided study excerpt.

Evidence quality The primary association evidence comes from a large UK Biobank GWAS (n=363,228 unrelated individuals) spanning five population groups (White British, non-British White, African, South Asian, and East Asian), with meta-analysis conducted across the four largest groups (n=355,891). The study applied Bonferroni correction (p < 5 x 10^-9 for imputed variants) and reported LD Score regression intercepts between 0.999 and 1.137, consistent with well-controlled population stratification. Fine-mapping identified 3,374 associations across all 35 biomarkers, and results were benchmarked against 42 other published cohorts for 25 of the biomarkers. The GTEx eQTL findings are based on 953 donors with FDR < 0.05 as the significance threshold GTEx Portal. Because the specific biomarker trait associated with this locus is not described in the available study text, the phenotypic implications of this variant remain unclear from the provided information.

Tissue-specific expression effects

  • GCNT4: The alternate allele is associated with reduced expression in the aorta (log2 slope -0.85, p=4.1e-9), tibial artery (slope -0.43, p=4.4e-6), and cultured fibroblasts (slope -0.24, p=3.3e-6) GTEx Portal
  • POC5: The alternate allele is associated with increased expression in the spleen (slope +0.70, p=9.0e-5), thyroid (slope +0.45, p=1.6e-5), and cultured fibroblasts (slope +0.34, p=3.0e-6) GTEx Portal
  • ANKDD1B: The alternate allele is associated with increased expression in the aorta (slope +0.57, p=2.0e-5) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • genetic predisposition to elevated cholesterol Moderate

    Variant increases LDL and total cholesterol; discussion enables personalized cardiovascular risk assessment

Screening

  • lipid panel (LDL, HDL, total cholesterol) Moderate

    Genetic variant increases LDL and total cholesterol levels, elevating cardiovascular risk

    Every 1-2 years starting in early adulthood; more frequently if levels are elevated

Frequently asked questions

What is rs114533012?

rs114533012 is a genetic variant in the FAM169A-AS1 - RPL27AP5 locus, identified as one of 1,857 genome-wide significant loci in a 2021 UK Biobank study of 35 blood and urine biomarkers measured in 363,228 people.

What genes are near rs114533012?

This variant sits in the FAM169A-AS1 - RPL27AP5 region. GTEx data show it has expression effects on GCNT4, POC5, and ANKDD1B across several tissues.

What does rs114533012 do to gene expression?

GTEx data show the alternate allele reduces GCNT4 expression in arterial tissues and fibroblasts, increases POC5 expression in the spleen and thyroid, and increases ANKDD1B expression in the aorta.

What study identified rs114533012?

This variant was identified in a 2021 UK Biobank study that analyzed 35 clinical laboratory measurements in 363,228 individuals and discovered over 1,800 associated genetic loci across the genome.

Is rs114533012 linked to a disease?

The available study data do not describe a direct disease association for this variant. It was identified in a biomarker GWAS, but the specific biomarker it is linked to is not detailed in the available study text.