NLRP1

Studies have associated variations in the NLRP1 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation). Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. 

One of the NLRP1 gene variation associated with vitiligos, written as Leu155His or L155H, changes the protein building block (amino acid) leucine to the amino acid histidine at a particular location in the NLRP1 protein sequence. This and other variations likely affect the activity of the NLRP1 protein, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.

NLRP1 gene variations have been associated with an increased risk of another autoimmune disorder called Addison disease, which occurs when the immune system attacks and damages the small hormone-producing glands on top of each kidney (adrenal glands). Certain NLRP1 gene variations seem to make affected individuals more prone to overactivity of the immune system, resulting in damage to the body's own tissues and organs.

NLRP1 gene variations have been associated with an increased risk of type 1 diabetes, an autoimmune disorder in which insulin-producing cells in the pancreas are destroyed. Certain NLRP1 gene variations seem to make affected individuals more prone to overactivity of the immune system, resulting in damage to the body's own tissues and organs.