DGKD – Rheumatoid Arthritis

In a recent multi‐family study of autoimmune disorders, DGKD (HGNC:2851) was flagged as a candidate gene for rheumatoid arthritis (PMID:31848144). The study, which applied whole‑exome sequencing in 31 families, identified DGKD among several T cell receptor signalling pathway genes with rare variants present across affected relatives. However, specific DGKD variants were not robustly reported, and the number of probands carrying pathogenic changes in DGKD remains limited (PMID:31848144).

Complementary functional assessment studies have characterized alternative splicing events in DGKD that affect its regulatory functions and subcellular localization (PMID:12200442). These experiments, performed in the context of neoplasms rather than rheumatoid arthritis, do not directly corroborate a role in arthritis pathogenesis. Overall, the genetic screening data combined with the indirect functional insights yield a limited yet suggestive association between DGKD and rheumatoid arthritis. Key take‑home: Additional targeted studies are necessary to ascertain DGKD’s pathogenic contribution to rheumatoid arthritis and enhance its clinical utility in diagnostic decision‑making.

References

• Annals of the rheumatic diseases • 2020 • Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren's syndrome highlight T cell-initiated autoimmunity PMID:31848144
• The Journal of biological chemistry • 2002 • Alternative splicing of the human diacylglycerol kinase delta gene generates two isoforms differing in their expression patterns and in regulatory functions PMID:12200442

Evidence Based Scoring (AI generated)