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    Topic review

    STAT4 Gene

    View times: 11
    Submitted by: Rui Liu
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Signal transducer and activator of transcription 4: The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

    1. Normal Function

    The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. The STAT4 protein is turned on (activated) by immune system proteins called cytokines, which are part of the inflammatory response to fight infection. When activated, the STAT4 protein increases the activity of genes that help immune cells called T-cells mature into specialized T-cells. These specialized T-cells, called Th1 cells, produce specific cytokines and stimulate other immune cells to get rid of foreign invaders (pathogens) in the cell.

    2. Health Conditions Related to Genetic Changes

    2.1. Systemic scleroderma

    A normal variation in the STAT4 gene has been associated with an increased risk of developing systemic scleroderma, which is an autoimmune disorder characterized by the buildup of scar tissue (fibrosis) in the skin and internal organs. Although the STAT4 gene is known to stimulate the immune system in response to pathogens, it is unknown how the gene variation contributes to the increased risk of systemic scleroderma. Researchers believe that a combination of genetic and environmental factors may play a role in development of the condition.

    2.2. Autoimmune disorders

    Studies have associated a normal variation in the STAT4 gene with an increased risk of several autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome.

    The variant associated with increased risk of autoimmune disorders changes a single DNA building block (nucleotide) in the STAT4 gene. It is unknown how the gene variation contributes to increased risk of these conditions. Researchers believe that a combination of genetic and environmental factors may play a role in development of autoimmunity.

    2.3. Other related diseases

    • Juvenile idiopathic arthritis

    • Rheumatoid arthritis

    • Systemic lupus erythematosus

    3. Other Names for This Gene

    • SLEB11

    • STAT4_HUMAN

    This entry is adapted from https://medlineplus.gov/genetics/gene/stat4

    References

    1. Allanore Y, Dieude P, Boileau C. Updating the genetics of systemic sclerosis. Curr Opin Rheumatol. 2010 Nov;22(6):665-70. doi: 10.1097/BOR.0b013e32833d110a.Review.
    2. Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R,Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't SlotR, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP,Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish SclerodermaGroup, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A,Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, LieBA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT,Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK,Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD.Genome-wide association study of systemic sclerosis identifies CD247 as a newsusceptibility locus. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565.
    3. Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suárez H, Ortego-CentenoN, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J,Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, CoenenMJ, Airo P, Beretta L, Scorza R, van Laar J, Gonzalez-Escribano MF, Nelson JL,Radstake TR, Martin J. The STAT4 gene influences the genetic predisposition tosystemic sclerosis phenotype. Hum Mol Genet. 2009 Jun 1;18(11):2071-7. doi:10.1093/hmg/ddp119.
    4. Thieu VT, Yu Q, Chang HC, Yeh N, Nguyen ET, Sehra S, Kaplan MH. Signaltransducer and activator of transcription 4 is required for the transcriptionfactor T-bet to promote T helper 1 cell-fate determination. Immunity. 2008 Nov14;29(5):679-90. doi: 10.1016/j.immuni.2008.08.017.
    5. Watford WT, Hissong BD, Bream JH, Kanno Y, Muul L, O'Shea JJ. Signaling byIL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev. 2004Dec;202:139-56. Review.
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