Publications by authors named "Sebastian Zoellner"
Background: The PNPLA3-rs738409-G, TM6SF2-rs58542926-T, and HSD17B13-rs6834314-A polymorphisms have been associated with cirrhosis, hepatic decompensation, and HCC. However, whether they remain associated with HCC and decompensation in people who already have cirrhosis remains unclear, which limits the clinical utility of genetics in risk stratification as HCC is uncommon in the absence of cirrhosis. We aimed to characterize the effects of PNPLA3, TM6SF2, and HSD17B13 genotype on hepatic decompensation, HCC, and liver-related mortality or liver transplant in patients with baseline compensated cirrhosis.
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- Understanding the patterns of drug-gene interactions (DGIs) is crucial for integrating pharmacogenetics (PGx) into clinical practice, as few studies have confirmed these interactions in patients with specific genotypes and prescriptions.
- A retrospective chart review found that 75% of patients were prescribed medications with PGx guidelines, with up to 60% having at least one DGI, mainly occurring in outpatient settings, and proton pump inhibitors being the most commonly involved medications.
- The findings highlight the prevalence of multigene interactions, suggesting that panel PGx testing could be a valuable strategy for clinical implementation, as well as indicate key stakeholders for DGI prescribing workflows.
Background: The risk of arterial diseases may be elevated among family members of individuals having multifocal fibromuscular dysplasia (FMD). We sought to investigate the risk of arterial diseases in families of individuals with FMD.
Methods: Family histories for 73 probands with FMD were obtained, which included an analysis of 463 total first-degree relatives focusing on FMD and related arterial disorders.
Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic cause of myocardial infarction (MI), typically in young women. We undertook a genome-wide association study of SCAD (N = 270/N = 5,263) and identified and replicated an association of rs12740679 at chromosome 1q21.2 (P = 2.
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