rs11073729 - ZNF592 - ALPK3
Magnitude 2.8 · 2 studies on file
Reported associations
-
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449
ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp
-
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect - Unknown journal (n.d.) · Unknown authors · PubMed 33495596
ABSTRACT: The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young otherwise healthy individuals. We conducted genome-wide association studies (GWAS) and multi-trait analyses in HCM (1,733 cases), DCM (5,521 cases), and nine left ventricular (LV) traits in 19,260 UK Biobank participants with structurally normal hearts. We identified 16 loci associated with HCM, 13 with DCM, and 23 with LV traits. We show strong genetic correlations between LV traits and cardiomyopathies, with opposing effects in HCM and DCM. Two-sample Mendelian randomization supports a causal association linking increased contractility with HCM risk. A polygenic risk score (PRS) explains a significant portion of phenotypic variability in
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
-
Serum creatine kinase level monitoring Moderate
rs11073729 T-allele is associated with elevated serum creatine kinase (p=5e-22 in 119257 individuals), a marker of muscle and cardiac function
Establish baseline CK level; recheck if symptoms of muscle pain or weakness develop
Screening
-
Cardiac screening for hypertrophic cardiomyopathy Moderate
rs11073729 C-allele is associated with hypertrophic cardiomyopathy (OR=1.19, p=8e-12 in 8361 individuals)
Discuss with cardiologist; arrange echocardiogram and EKG if not recently performed