ArticleClinical autonomic research : official journal of the Clinical Autonomic Research Society2025
The genetic landscape of pediatric postural orthostatic tachycardia syndrome.
Article in Clinical autonomic research : official journal of the Clinical Autonomic Research Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Patient Characteristics of a Telemedicine Clinic for Pediatric and Young Adult Postural Orthostatic Tachycardia Syndrome.Journal of clinical medicine · 2026Article
- Genetic variants in acetylcholine processing and significant improvement with pyridostigmine in a patient with postural orthostatic tachycardia syndrome: a case report.European heart journal. Case reports · 2026Article
- Navigating Complexity in Postural Orthostatic Tachycardia Syndrome.Biomedicines · 2024Review
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Authors and funding
14 authors.
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Abstract
backgroundPostural orthostatic tachycardia syndrome (POTS) is a complex disorder with serious health consequences, while its etiology remains largely elusive.
objectiveThe purpose of this study was to investigate the genetic landscape of POTS using genomic approaches in a unique pediatric cohort.
methodsWe conducted a combined genome wide genotyping and whole exome sequencing (WES) study to systemically examine the molecular mechanisms of POTS pathogenesis. The patients were genotyped as two independent cohorts: a family cohort of 100 complete families and a case-control cohort of 207 unrelated European cases and 4063 ethnicity-matched control subjects. The WES component consisted of a subset of the genotyped subjects, including 87 unrelated European cases and 2719 unrelated European control subjects.
resultsThe heterogeneous phenotype of POTS made achieving genome-wide significance improbable. Instead, 5670 SNPs with nominal significance (P < 0.05) were identified in both the family and case-control cohorts, with effects in the same direction. We conducted an over-representation analysis (ORA) by considering all genes that showed nominal significance. The ORA identified gene sets linked to cell-cell junction, early estrogen response, and substance-related disorders with statistical significance. Moreover, WES revealed 55 genes with genome-wide significance through rare variant burden analysis, harboring 92 variants classified as pathogenic or likely pathogenic by ClinVar.
conclusionsThis study showcases the complex interplay between common and rare genetic variants in POTS development, marking a pioneering step forward in deciphering its complex etiologies. The insights from this research enrich our understanding of POTS, offering new avenues for precise treatment strategies and highlighting areas for further research.
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