A GENE AND PATHWAY AND THEIR USE IN METHODS AND COMPOSITIONS FOR PREDICTING ONSET OR PROGRESSION OF AUTOIMMUNE AND/OR AUTOINFLAMMATORY DISEASES

摘要

Embodiments of the present invention concern methods, compositions and uses thereof, relating to at least one of vitiligo, or vitiligo-associated autoimmune/autoinflammatory disease (VAAAD). In particular embodiments, genetic variations in the NALP1 gene are of use to detect, diagnose, predict the risk of or treat at least one of vitiligo or VAAAD. In more particular embodiments, the presence of genetic variations such as single-nucleotide polymorphisms (SNPs) in NALP1 genetic region are of use to detect, diagnose or predict the risk of VAAAD. In other embodiments, inhibitors targeted to NALP1, caspase-1 or caspase-5, ASC (PYCARD), interleukin-1ß, interleukin-1ß receptor, or interleukin 18 may be administered to a subject to treat VAAAD.