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Abstract Details

Immunogenetic Risk Markers in Postural Orthostatic Tachycardia Syndrome
Neuromuscular and Clinical Neurophysiology (EMG)
Autonomic Disorders Posters (7:00 AM-5:00 PM)
005
POTS is a condition of unknown etiology characterized by chronic orthostatic tachycardia and intolerance in the absence of orthostatic hypotension. Prior research suggests autoimmune involvement in POTS, with one study identifying HLA risk associations in South Korean POTS patients. We sought to replicate these findings in a United States POTS cohort. 
Human Leukocyte Antigen (HLA) typing was performed for Postural Orthostatic Tachycardia Syndrome (POTS) subjects to identify potential HLA risk alleles.

Individuals diagnosed with POTS by a physician were recruited during the Dysautonomia International 2019 patient conference. Orthostatic vitals, Beighton Score for generalized hypermobility (GH), medical history, and quality of life scores were obtained from participants (median age 28 years, range 13-74). Intermediate-resolution HLA typing was performed for 93 subjects using sequence specific primers (SSP-Olerup, CareDX, PA, USA) for loci A, -B, -DQA1, -DQB1, and -DRB1. Allele frequencies were compared to Caucasian Americans in the Allele Frequency Net Database (AFND, Nucleic Acids Research, 2020) to calculate odds ratios (OR) for HLA associations.

Participants were primarily female (93%), Caucasian (95%), and non-Hispanic (88%). POTS participants were more likely (OR; 95% CI) to present class I alleles B*15:01 (2.52, 1.66-3.81), B*18:01 (2.03, 1.22-3.39), and B*40:01 (2.91, 1.93-4.41). Similarly, class II alleles DQA1*02:01 (1.94, 1.32-2.86), DQB1*02:01 (2.84, 1.97-4.10), DRB1*03:01 (1.85, 1.30-2.65), and DRB1*13:01 (1.80, 1.11-2.92) were more common. 48% of cases tested positive for GH and showed associations with DQB1*02:01 (2.43, 1.41-4.23) and DRB1*15:01 (1.85, 1.07-3.20), while non-hypermobile subjects carried B*40:01 (3.59, 2.06-6.24), DRB1*04:01 (1.91, 1.05-3.46), and DRB1*13:01 (2.10, 1.09-4.05) alleles more frequently.

Class I and II HLA alleles implicated in numerous autoimmune diseases were identified as risk alleles in POTS participants, indicating potential immunogenetic predispositions. Associated alleles in US POTS subjects differed from the South Korean POTS cohort. Our data suggest that people with POTS have increased genetic risk for autoimmunity.

Authors/Disclosures
Zachary Orban (Northwestern University)
PRESENTER
No disclosure on file
No disclosure on file
No disclosure on file
Juliana Nitis Ms. Nitis has nothing to disclose.
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file