Expressive

rs11073663 - SEC11A - ZNF592

Magnitude 2.0 · 2 studies on file

Reported associations

  • Multi-ethnic Genome-wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits - Unknown journal (n.d.) · Unknown authors · PubMed 32602732

    ABSTRACT: Background - We examined how expanding electrocardiographic (ECG) trait genome-wide association studies (GWAS) to include ancestrally diverse populations, prioritize more precise phenotypic measures, and evaluate evidence for shared genetic effects enabled the detection and characterization of loci. Methods - We decomposed 10-second, 12-lead ECGs from 34,668 multiethnic participants (15% African American; 30% Hispanic/Latino) into six contiguous, physiologically-distinct (P wave, PR segment, QRS interval, ST segment, T wave, and TP segment) and two composite, conventional (PR interval and QT interval) interval-scale traits and conducted multivariable-adjusted, trait-specific univariate GWAS using 1000-G imputed SNPs. Evidence of shared genetic effects was evaluated by aggregating

  • 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

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