rs11837319 - ATP5F1B - PTGES3

Magnitude 2.2 · 2 studies on file

Reported associations

• Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes - Unknown journal (n.d.) · Unknown authors · PubMed 33972514

  ABSTRACT: Serum concentration of hepatic enzymes are linked to liver dysfunction, metabolic and cardiovascular diseases. We perform genetic analysis on serum levels of alanine transaminase (ALT), alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) using data on 437,438 UK Biobank participants. Replication in 315,572 individuals from European descent from the Million Veteran Program, Rotterdam Study and Lifeline study confirms 517 liver enzyme SNPs. Genetic risk score analysis using the identified SNPs is strongly associated with serum activity of liver enzymes in two independent European descent studies (The Airwave Health Monitoring study and the Northern Finland Birth Cohort 1966). Gene-set enrichment analysis using the identified SNPs highlights involvement in liver developm

• Multi-ancestry genome-wide association study of serum creatine kinase implicates myopathy genes and muscle pathways - Unknown journal (n.d.) · Unknown authors · PubMed 42066438

  ABSTRACT: Summary Background Serum creatine kinase (CK) is a routinely measured biomarker of muscle damage, yet the genetic factors underlying inter-individual variation in CK levels remain poorly defined. Methods Here we present a large multi-ancestry genome-wide association meta-analysis of serum CK, comprising 237,255 participants spanning Admixed American, African American, East Asian, European and Middle Eastern populations. Findings We identify 107 independent loci at genome-wide significance (P< 5 × 10−8), 98 of which are previously unreported, with pronounced enrichment for genes expressed in skeletal and cardiac muscle and overlap with pathways related to muscle structure and function. Notably, eight loci map to genes implicated in Mendelian myopathies, underscoring a continuum

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.