Exome Sequencing of Chinese Patients With Anticitrullinated Protein Antibody–Positive Rheumatoid Arthritis in Singapore
Authors' conclusion
In this WES study of ACPA-positive RA in Chinese patients, we discovered 2 new variants in PCNXL4 and DHRS7 associated with risk for RA.
Study context
- Population
- Chinese patients with anticitrullinated protein antibody (ACPA)-positive rheumatoid arthritis (RA) from 3 major public hospitals in Singapore, and Chinese controlsWhole-exome sequencing (WES) 595 cases, 1281 controls
- Comparison
- ACPA-positive RA patients vs controls
- Outcome
- Susceptibility SNVs significant in independent validation cohort
Methodological detailswhole-exome sequencing case-control study, discovery and independent validation cohorts, multicentre
- Whole-exome sequencing case-control study
- Discovery and independent validation cohorts
- Multicentre
Main finding
As reported in the abstract
- PCNXL4
- P = 1.50 × 10-5
- DHRS7
- P = 6.02 × 10-5
Observational data: associations, not effects.
Further findings
Susceptibility single-nucleotide variants (SNVs) in discovery cohort
- Susceptibility SNVs reaching statistical significance
- 73
Known susceptibility loci
- The majority of known susceptibility foci were not captured by exome sequencing
Original publication
Exome Sequencing of Chinese Patients With Anticitrullinated Protein Antibody–Positive Rheumatoid Arthritis in Singapore. J Rheumatol. Published 1 December 2024. doi:10.
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