Sjögren's disease & overlap diseases
Identification of potential susceptibility genes in patients with primary Sjögren’s syndrome-associated pulmonary arterial hypertension through whole exome sequencing
Authors' conclusion
Our findings provide preliminary data of exome sequencing to identify susceptibility loci for pSS-PAH and enriched our understanding of the genetic etiology for pSS-PAH.
Study context
- Population
- Unrelated patients with Primary Sjögren's Syndrome (pSS)-associated Pulmonary Arterial Hypertension (PAH), Peking Union Medical College Hospital, April 2019 to July 2021
- Participants
- 34 unrelated patients
- Outcome
- Pathogenic variants identified by whole-exome sequencing (WES)
Methodological detailswhole-exome sequencing, single-centre, PCR-Sanger sequencing confirmation, gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis
- Whole-exome sequencing
- Single-centre
- PCR-Sanger sequencing confirmation
- GO and KEGG pathway analysis
Main finding
As reported in the abstract
Pathogenic variant loci identified
141
Genes carrying pathogenic variant loci
129
Candidate pathogenic variants after Sanger confirmation and pathogenicity validation: FLG c.12064A > T, BCR c.3275_3278dupCCGG, GIGYF2 c.3463C > A, ITK c.1741C > T, SLC26A4 c.919-2A > G
5
Further findings
Family history of rheumatic diseases and FLG mutations or variants in the biosynthesis of amino acids pathway
- Patients with a family history of rheumatic diseases more likely to carry FLG mutations or gene variations related to the biosynthesis of amino acids pathway
- P < 0.05
Original publication
Identification of potential susceptibility genes in patients with primary Sjögren’s syndrome-associated pulmonary arterial hypertension through whole exome sequencing. Arthritis Res Ther. Published 20 September 2023. doi:10.
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