Systemic sclerosis & Raynaud's
A Phenome-Wide Association Study of Drugs and Comorbidities Associated With Gastrointestinal Dysfunction in Systemic Sclerosis
Authors' conclusion
Using a hypothesis-free PheWAS approach, we replicated known, and revealed potential novel, risk factors for SSc-GI dysfunction, including drug classes such as opioid, antimuscarinic, and endothelin receptor antagonist, and ANA subgroup.
Study context
- Population
- Consenting individuals with systemic sclerosis (SSc) at the Royal Free Hospital (UK)1,546 entered into phenome-wide association study (PheWAS)
- Participants
- 2,058 individuals
- Outcome
- Associations of comorbidities and drugs with 6 SSc-GI domains (constipation, diarrhea, dysmotility, incontinence, gastroesophageal reflux, SIBO)
Methodological detailshypothesis-free, real-world clinical records data, single-centre, 12 535 documented clinical assessments available for phenotyping; diagnoses and drugs mapped to Disease Ontology and DrugBank Open Data; hits confirmed in subcohort with GIT 2.0 symptom scores
- Hypothesis-free
- Real-world clinical records data
- Single-centre
- 12 535 documented clinical assessments available for phenotyping; diagnoses and drugs mapped to Disease Ontology and DrugBank Open Data; hits confirmed in subcohort with GIT 2.0 symptom scores
Main finding
As reported in the abstract
Associations with SSc-GI outcomes
- Distinct diagnoses identified
- 673
- Distinct drugs identified
- 634
- Links with SSc-GI confirmed by GIT 2.0 scores: drugs
- 22
- Links with SSc-GI confirmed by GIT 2.0 scores: diagnoses
- 4
- Links with SSc-GI confirmed by GIT 2.0 scores: Antinuclear antibodies (ANAs)
- 3
Original publication
A Phenome-Wide Association Study of Drugs and Comorbidities Associated With Gastrointestinal Dysfunction in Systemic Sclerosis. J Rheumatol. Published 15 February 2023. doi:10.
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