Systemic sclerosis & Raynaud's

Anti‐Gephyrin Antibodies: A Novel Specificity in Patients With Systemic Sclerosis and Lower Bowel Dysfunction

Arthritis RheumatolPublished Cross-sectional study

Authors' conclusion

Gephyrin is a novel ENS autoantigen that is expressed in human myenteric ganglia. Anti-gephyrin autoantibodies are associated with the presence and severity of constipation in patients with SSc.

Study context

Population
Patients with systemic sclerosis (SSc) in a SSc cohort; healthy controls
Participants
188 SSc patients
Exposure
Anti-gephyrin antibody-positive vs antibody-negative patients with SSc
  • Anti-gephyrin antibody-positiven = 16
  • Healthy controlsn = 46reference
Outcome
Prevalence of anti-gephyrin antibodies and associated clinical features (GI dysfunction)
Methodological detailsautoantibody discovery by immunoprecipitation and mass spectrometry, regression analyses, immunohistochemistry
  • Autoantibody discovery by immunoprecipitation and mass spectrometry
  • Regression analyses
  • Immunohistochemistry

Main finding

As reported in the abstract

Prevalence of anti-gephyrin antibodies

Anti-gephyrin positive

9%

16 events

Healthy controls

0

events

Observational data: associations, not effects.

Further findings

Severe constipation

P = 0.005

Severe distention/bloating

P = 0.023

OutcomeAnti-gephyrin positiveAnti-gephyrin negativeP value
Constipation score1.000.50P = 0.02
Anti-gephyrin antibody levels, severe vs no severe constipation · 0.04 vs 0.00
P = 0.001
Anti-gephyrin antibody levels, severe vs no severe distention and bloating · 0.03 vs 0.004
P = 0.010

Severe constipation

Severe constipation associated with anti-gephyrin antibodies even in the adjusted model

Gephyrin expression in human gastrointestinal (GI) tract

Gephyrin expressed in the enteric nervous system (ENS), which regulates gut motility

Original publication

Anti‐Gephyrin Antibodies: A Novel Specificity in Patients With Systemic Sclerosis and Lower Bowel Dysfunction. Arthritis Rheumatol. Published 10 November 2023. doi:10.1002/art.42667

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