Lupus & antiphospholipid syndrome
Clinical, serological, and targeted genetic analysis of systemic lupus erythematosus in Kazakhstan
Authors' conclusion
Analysis of data obtained from Kazakh patients with SLE revealed diverse autoimmune profiles, including various antibodies, pro- and anti-inflammatory cytokines, as well as several variants in REL, IRAK1, PTRPC, IL6ST genes.
Study context
- Population
- Kazakh individuals with SLE and healthy controls
- Participants
- 43 individuals
- Exposure
- SLE patients vs healthy controls
- SLEn = 25
- Healthy controlsn = 18reference
- Outcome
- Clinical features of SLE
Methodological detailscase-control, targeted gene panel sequencing
- Case-control
- Targeted gene panel sequencing
Main finding
As reported in the abstract
- Skin lesions
- 88%
- Joint involvement
- 84%
- LN
- 56%
- Hematological disorders
- 40%
- Cardiac injury
- 36%
- Vascular injury
- 36%
- Nervous system involvement
- 8%
- Mucous membrane involvement
- 8%
- Thyroid gland involvement
- 8%
- Positive antinuclear factor (ANF)
- 92%
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Cytokine levelsSLE vs Healthy controls · IL-6, IL-18, IFN markedly elevated in SLE | P = 0.02 |
| Cytokine levelsSLE vs Healthy controls · IL-10 elevated in SLE | P = 0.02 |
Rare variants in gene panel
- Most significant variants in SAMD9L, REL, IRAK1, PTPRC, TLR7, TNFAIP3, IL6ST, BLK, CCR5, TFPI, CLEC16 A, IL2RB, ITGA2B, ABCC2, KIF5A, NCF2, CD5; none showed statistically important enrichment in the disease cohort
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Clinical, serological, and targeted genetic analysis of systemic lupus erythematosus in Kazakhstan. Lupus. Published 27 February 2026. doi:10.
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