Table of Contents

    Topic review

    IL23R Gene

    View times: 9
    Submitted by: Dean Liu
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Interleukin 23 receptor

    1. Introduction

    The IL23R gene provides instructions for making a protein called the interleukin 23 (IL-23) receptor. This protein is embedded in the outer membrane of several types of immune system cells, including T cells, natural killer (NK) cells, monocytes, and dendritic cells. These cells identify foreign substances and defend the body against infection and disease.

    At the cell surface, the IL-23 receptor interacts with a protein called IL-23. These two proteins fit together like a lock and key. IL-23 is a cytokine, which is a type of protein that regulates the activity of immune cells. When IL-23 binds to its receptor, it triggers a series of chemical signals inside the cell. These signals promote inflammation and help coordinate the immune system's response to foreign invaders such as bacteria and viruses.

    2. Health Conditions Related to Genetic Changes

    2.1. Ankylosing Spondylitis

    Several variations (polymorphisms) in the IL23R gene have been found to influence the risk of ankylosing spondylitis. One of these variations appears to reduce the likelihood of developing this disorder. This genetic change alters a single protein building block (amino acid) in the IL-23 receptor, replacing the amino acid arginine with the amino acid glutamine at protein position 381 (written as Arg381Gln or R381Q). Other IL23R variations appear to increase the risk of developing ankylosing spondylitis. It is not clear how these changes are related to a person's risk of developing this disorder, but studies suggest that the effects of IL23R variations are likely related to the IL-23 receptor's role in inflammation. Other genetic and environmental factors, many of which are unknown, also affect the chance of developing ankylosing spondylitis.

    2.2. Crohn Disease

    Several variations in or near the IL23R gene have been found to influence the risk of developing Crohn disease. These associations have been found primarily in people of northern European ancestry. For example, Arg381Gln, which is a protective factor for ankylosing spondylitis (described above), also appears to reduce the risk of developing Crohn disease. Although it is unclear how this change protects against Crohn disease, researchers believe that the receptor's role in triggering inflammation in the intestinal walls may underlie its connection with this disorder.

    2.3. Other Disorders

    Variations in the IL23R gene have also been associated with the risk of several other immune system-related conditions, including a skin disorder called psoriasis. People with this chronic inflammatory condition have patches of red, irritated skin that are often covered by flaky white scales. Psoriasis likely results from a malfunction of the immune system in which the body's immune response turns against itself, attacking healthy skin cells by mistake.

    Each of the known IL23R variations changes a single amino acid in the IL-23 receptor. One of these variations, Arg381Gln, appears to reduce the risk of developing psoriasis. (This variation has also been shown to protect against ankylosing spondylitis and Crohn disease, described above.) Other IL23R variations may increase the risk of developing psoriasis. Researchers suggest that changes in the IL23R gene may contribute to general problems with regulation of the immune system, which may help explain why these variations are related to several different disorders characterized by immune system dysfunction.

    3. Other Names for This Gene

    • IL-23R

    • IL23R_HUMAN

    • interleukin-23 receptor

    The entry is from https://medlineplus.gov/genetics/gene/il23r

    References

    1. Abdollahi E, Tavasolian F, Momtazi-Borojeni AA, Samadi M, Rafatpanah H.Protective role of R381Q (rs11209026) polymorphism in IL-23R gene inimmune-mediated diseases: A comprehensive review. J Immunotoxicol. 2016May;13(3):286-300. doi: 10.3109/1547691X.2015.1115448.
    2. Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L, Timms K,Gutin A, Abkevic V, Burden AD, Lanchbury J, Barker JN, Trembath RC, Nestle FO.Sequence variants in the genes for the interleukin-23 receptor (IL23R) and itsligand (IL12B) confer protection against psoriasis. Hum Genet. 2007Sep;122(2):201-6.
    3. Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB. Alarge-scale genetic association study confirms IL12B and leads to theidentification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007Feb;80(2):273-90.
    4. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH,Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S,Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI,Nicolae DL, Cho JH. A genome-wide association study identifies IL23R as aninflammatory bowel disease gene. Science. 2006 Dec 1;314(5804):1461-3.
    5. Garcia VE, Chang M, Brandon R, Li Y, Matsunami N, Callis-Duffin KP, Civello D,Rowland CM, Bui N, Catanese JJ, Krueger GG, Leppert MF, Begovich AB, Schrodi SJ. Detailed genetic characterization of the interleukin-23 receptor in psoriasis.Genes Immun. 2008 Sep;9(6):546-55. doi: 10.1038/gene.2008.55.
    6. Rueda B, Orozco G, Raya E, Fernandez-Sueiro JL, Mulero J, Blanco FJ, VilchesC, González-Gay MA, Martin J. The IL23R Arg381Gln non-synonymous polymorphismconfers susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2008Oct;67(10):1451-4. doi: 10.1136/ard.2007.080283.
    7. Tonel G, Conrad C, Laggner U, Di Meglio P, Grys K, McClanahan TK, BlumenscheinWM, Qin JZ, Xin H, Oldham E, Kastelein R, Nickoloff BJ, Nestle FO. Cutting edge: A critical functional role for IL-23 in psoriasis. J Immunol. 2010 Nov15;185(10):5688-91. doi: 10.4049/jimmunol.1001538.
    8. Wellcome Trust Case Control Consortium; Australo-Anglo-American SpondylitisConsortium (TASC), Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P,Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA,Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL,Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U,Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, StevensHE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL,Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K,Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, BarrettJH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ,Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC,Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J,Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB,Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A;Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) SteeringCommittee, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL,Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B,Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT,Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ,Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, FarrarC, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, GoughSC, Seal S; Breast Cancer Susceptibility Collaboration (UK), Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Newport M, SirugoG, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE,Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P,Widden C, Withers D, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J,Hallgrimsdo'ttir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Brown MA,Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Parkes M, Pembrey M,Stratton MR, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SH, McGinnisR, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims AM, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH, Brown M. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.Nat Genet. 2007 Nov;39(11):1329-37.
    More

    Keywords

    1. Please check and comment entries here.