NALP1 in Vitiligo-Associated Multiple Autoimmune Disease

• Published in: The New England journal of medicine Vol. 356; no. 12; pp. 1216 - 1225
• Main Authors: Jin, Ying, Mailloux, Christina M, Gowan, Katherine, Riccardi, Sheri L, LaBerge, Greggory, Bennett, Dorothy C, Fain, Pamela R, Spritz, Richard A
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 22-03-2007
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Amino Acid Sequence; Apoptosis Regulatory Proteins - genetics; Autoimmune diseases; Autoimmune Diseases - genetics; Biological and medical sciences; Chromosomes, Human, Pair 17; Dermatology; General aspects; Genetic Linkage; Genetic Predisposition to Disease; Genetic Variation; Genetics; Genotype; Humans; Immune system; Inheritance Patterns; Logistic Models; Lupus; Medical sciences; Molecular Sequence Data; Pigmentary diseases of the skin; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Sequence Alignment; Sequence Analysis, DNA; Thyroid gland; Vitiligo - genetics; Vitiligo - immunology; United States > US; Medicine; Immunopathology; Skin disease; Vitiligo; Pigmentation disorder; Multiple; Autoimmune disease
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJMoa061592

A region on chromosome 17 has been associated with a range of epidemiologically associated autoimmune and autoinflammatory diseases, including vitiligo. Using two sets of genetic markers and two groups of patients, the authors have implicated variants of
NALP1
in susceptibility to autoimmune disease.
Autoimmune and autoinflammatory diseases are a group of about 80 disorders that can involve almost any tissue, organ, or system.
1
A major source of illness and death, these diseases together affect 15 to 25 million people in the United States,
2
particularly women,
3
,
4
in whom they rank among the top 10 causes of death.
5
The risk of autoimmune and autoinflammatory diseases is thought to depend on interactions between environmental factors and specific variants of specific genes, some of which may confer a risk that an individual disease will develop, and others a risk that several different diseases will develop.
6
Indeed, . . .