rs114622784 - ATP2B2

Magnitude 4.5 · 2 studies on file

Reported associations

• Genome-Wide Analysis of Clopidogrel Active Metabolite Levels Identifies Novel Variants that Influence Antiplatelet Response - Unknown journal (n.d.) · Unknown authors · PubMed 28207573

  ABSTRACT: Clopidogrel is one of the most commonly used therapeutics for secondary prevention of cardiovascular events in patients with acute coronary syndromes. However, substantial inter-individual variation in clopidogrel response has been documented, resulting in suboptimal therapy and an increased risk of recurrent events for some patients. In this investigation, we conducted the first genome-wide association study of circulating clopidogrel active metabolite levels in 513 healthy participants in order to directly measure clopidogrel pharmacokinetics. We observed that the CYP2C19 locus was the strongest genetic determinant of active metabolite formation (P=9.5×10−15). In addition, we identified novel genome-wide significant variants on chromosomes 3p25 (rs187941554, P=3.3×10−11)

• Decreased Circulating Very Small Low-Density Lipoprotein is Likely Causal for Age-Related Macular Degeneration - Unknown journal (n.d.) · Unknown authors · PubMed 39091897

  ABSTRACT: Objective Abnormal changes in metabolite levels in serum or plasma have been highlighted in several studies in age-related macular degeneration (AMD), the leading cause of irreversible vision loss. Specific changes in lipid profiles are associated with an increased risk of AMD. Metabolites could thus be used to investigate AMD disease mechanisms or incorporated into AMD risk prediction models. However, whether particular metabolites causally affect the disease has yet to be established. Design A 3-tiered analysis of blood metabolites in the United Kingdom (UK) Biobank cohort to identify metabolites that differ in AMD patients with evidence for a putatively causal role in AMD. Participants A total of 72 376 donors from the UK Biobank cohort including participants with AMD (N = 

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