The genetic landscape of pediatric postural orthostatic tachycardia syndrome.

ABSTRACT:

Background

Postural orthostatic tachycardia syndrome (POTS) is a complex disorder with serious health consequences, while its etiology remains largely elusive.

Objective

The purpose of this study was to investigate the genetic landscape of POTS using genomic approaches in a unique pediatric cohort.

Methods

We 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

SUBMITTER: Qu H 

PROVIDER: S-EPMC12137463 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature