Lupus & antiphospholipid syndrome
Association Study Identified HLA‐DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus‐Associated Pulmonary Arterial Hypertension
Authors' conclusion
HLA-DQA1*03:02 is a novel genetic risk factor and a prognostic factor in SLE-associated PAH.
Study context
- Population
- Patients with systemic lupus erythematosus (SLE)-associated pulmonary arterial hypertension (PAH), patients with SLE without PAH, and healthy controls19,881 major histocompatibility complex (MHC) variants identified
- Participants
- 172 / 1,303 / 9,906
- Comparison
- SLE-associated PAH vs SLE without PAH and healthy controls
- SLE-PAHn = 172
- SLE without PAHn = 1,303reference
- Healthy controlsn = 9,906reference
- Outcome
- Genetic variants within the MHC region associated with SLE-associated PAH susceptibility
Methodological detailsMHC region deep sequencing, discovery and independent replication cohorts
- MHC region deep sequencing
- Discovery and independent replication cohorts
Main finding
As reported in the abstract
Association of HLA-DQA1*03:02 with SLE-associated PAH
- HLA-DQA1*03:02 associated with SLE-associated PAH, discovery cohort
- P = 5.68 × 10-12
- HLA-DQA1*03:02 association, independent replication cohort
- P = 1.30 × 10-9
Further findings
Clinical outcomes in SLE-associated PAH by HLA-DQA1*03:02 carriage
- Significantly lower rate of target role achievement with HLA-DQA1*03:02
- P = 0.005
- Significantly lower survival with HLA-DQA1*03:02
- P = 0.04
Original publication
Association Study Identified HLA‐DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus‐Associated Pulmonary Arterial Hypertension. Arthritis Rheumatol. Published 24 October 2023. doi:10.
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