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NALP1 in vitiligo-associated multiple autoimmune disease.
Ying Jin1, Christina M Mailloux, Katherine Gowan
1Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA.
The New England Journal of Medicine
|March 23, 2007
Summary
Genetic variants in the NALP1 region are linked to multiple autoimmune and autoinflammatory diseases. This implicates the innate immune system in the development of these conditions, including vitiligo and rheumatoid arthritis.
Area of Science:
- Genetics
- Immunology
- Dermatology
Background:
- Autoimmune and autoinflammatory diseases arise from genetic and environmental factors.
- A specific group of linked autoimmune and autoinflammatory conditions were investigated.
- These conditions include vitiligo, autoimmune thyroid disease, and rheumatoid arthritis, among others.
Purpose of the Study:
- To identify a gene on chromosome 17p13 associated with a cluster of autoimmune and autoinflammatory diseases.
- To pinpoint specific genetic variants contributing to disease risk.
Main Methods:
- Tested 177 single-nucleotide polymorphisms (SNPs) for disease association.
- Sequenced DNA around a candidate gene to identify additional SNPs.
- Conducted fine-scale association mapping and conditional logistic-regression analysis.
Main Results:
- Identified NALP1 (NACHT leucine-rich-repeat protein 1) as a candidate gene.
- NALP1 variants were associated with vitiligo, broader autoimmune/autoinflammatory phenotypes, or both.
- At least two NALP1 variants independently contribute to disease risk.
Conclusions:
- DNA variants in the NALP1 region are associated with the risk of several linked autoimmune and autoinflammatory diseases.
- This highlights the role of the innate immune system in the pathogenesis of these disorders.
