How a DNA region on chromosome 12 may raise lupus risk
Official title: Functional consequences of intergenic autoimmune disease risk variants
Funded at Hospital for Special Surgery · NIH-11284020 · Data updated 2026-11-12
This project looks at whether small DNA differences near genes change immune-cell behavior in people with lupus and related interferon-driven responses.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Hospital for Special Surgery NIH-funded |
| Lab location | 1 site (New York, UNITED STATES) |
| Project start | March 3, 2023 |
| Project end | February 29, 2028 |
| Funding year | 2026 |
| Award (this year) | $817,521 |
| NIH project number | 5R01AI164968-04 |
| Project ID | NIH-11284020 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal participants are people diagnosed with systemic lupus erythematosus who are willing to provide blood samples and share genetic and clinical information for research.
✕Less likely to help
Patients seeking immediate new treatments or those without SLE (or unwilling to give blood samples) are unlikely to get direct clinical benefit from this project.
What this research studies
Researchers will study DNA changes in a specific region on chromosome 12 that has been linked to lupus. They will examine my blood immune cells with lab tools like ATAC-seq and gene-expression tests to see whether these changes alter nearby long noncoding RNAs and immune-related genes, including those that control interferon responses. The team will perform targeted lab experiments to modify those regulatory elements and observe how gene activity and cell function change. Their approach is designed to reveal molecular steps by which noncoding variants could increase SLE risk.
Why it matters
Potential benefit: If successful, this work could reveal new molecular targets for therapies that reduce interferon-driven inflammation in lupus.
How similar studies have gone: Prior genomic studies have linked noncoding variants and regulatory elements to autoimmune risk, but direct functional validation in human immune cells remains relatively new.
Where this research is happening
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Hospital for Special Surgery
New York, United States Active
Researchers
- Principal investigator: Niewold, Timothy B — Hospital for Special Surgery
- Study coordinator: Niewold, Timothy B
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.