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Celiac disease, susceptibility to, 3(CELIAC3)

MedGen UID:
347563
•Concept ID:
C1857845
•
Finding
Synonyms: Celiac disease 3; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3
 
Gene (location): CTLA4 (2q33.2)
 
Monarch Initiative: MONDO:0012341
OMIM®: 609755

Definition

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750. [from OMIM]

Professional guidelines

PubMed

Guidelines for best practices in monitoring established coeliac disease in adult patients.
Elli L, Leffler D, Cellier C, Lebwohl B, Ciacci C, Schumann M, Lundin KEA, Chetcuti Zammit S, Sidhu R, Roncoroni L, Bai JC, Lee AR, Dennis M, Robert ME, Rostami K, Khater S, Comino I, Cebolla A, Branchi F, Verdu EF, Stefanolo JP, Wolf R, Bergman-Golden S, Trott N, Scudeller L, Zingone F, Scaramella L, Sanders DS
Nat Rev Gastroenterol Hepatol 2024 Mar;21(3):198-215. Epub 2023 Dec 18 doi: 10.1038/s41575-023-00872-2. PMID: 38110546
Celiac disease: histology-differential diagnosis-complications. A practical approach.
Villanacci V, Vanoli A, Leoncini G, Arpa G, Salviato T, Bonetti LR, Baronchelli C, Saragoni L, Parente P
Pathologica 2020 Sep;112(3):186-196. doi: 10.32074/1591-951X-157. PMID: 33179621Free PMC Article
Autoimmune diseases and celiac disease which came first: genotype or gluten?
Diamanti A, Capriati T, Bizzarri C, Ferretti F, Ancinelli M, Romano F, Perilli A, Laureti F, Locatelli M
Expert Rev Clin Immunol 2016;12(1):67-77. Epub 2015 Oct 16 doi: 10.1586/1744666X.2016.1095091. PMID: 26471843

Recent clinical studies

Etiology

Relationship between gluten availability and celiac disease prevalence: A geo-epidemiologic systematic review.
Jansson-Knodell CL, Celdir MG, Hujoel IA, Lyu R, Gardinier D, Weekley K, Prokop LJ, Rubio-Tapia A
J Gastroenterol Hepatol 2023 Oct;38(10):1695-1709. Epub 2023 Jun 18 doi: 10.1111/jgh.16260. PMID: 37332011
Causal association between celiac disease and inflammatory bowel disease: A two-sample bidirectional Mendelian randomization study.
Yuan S, Kim JH, Xu P, Wang Z
Front Immunol 2022;13:1057253. Epub 2023 Jan 4 doi: 10.3389/fimmu.2022.1057253. PMID: 36685511Free PMC Article
Cellular and molecular bases of refractory celiac disease.
Soderquist CR, Bhagat G
Int Rev Cell Mol Biol 2021;358:207-240. Epub 2021 Feb 13 doi: 10.1016/bs.ircmb.2020.12.001. PMID: 33707055
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K
Nature 2020 Aug;584(7822):619-623. Epub 2020 Jun 24 doi: 10.1038/s41586-020-2436-0. PMID: 32581359
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G
JAMA Oncol 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945. PMID: 28241208Free PMC Article

Diagnosis

Relationship between gluten availability and celiac disease prevalence: A geo-epidemiologic systematic review.
Jansson-Knodell CL, Celdir MG, Hujoel IA, Lyu R, Gardinier D, Weekley K, Prokop LJ, Rubio-Tapia A
J Gastroenterol Hepatol 2023 Oct;38(10):1695-1709. Epub 2023 Jun 18 doi: 10.1111/jgh.16260. PMID: 37332011
Causal association between celiac disease and inflammatory bowel disease: A two-sample bidirectional Mendelian randomization study.
Yuan S, Kim JH, Xu P, Wang Z
Front Immunol 2022;13:1057253. Epub 2023 Jan 4 doi: 10.3389/fimmu.2022.1057253. PMID: 36685511Free PMC Article
Celiac disease: histology-differential diagnosis-complications. A practical approach.
Villanacci V, Vanoli A, Leoncini G, Arpa G, Salviato T, Bonetti LR, Baronchelli C, Saragoni L, Parente P
Pathologica 2020 Sep;112(3):186-196. doi: 10.32074/1591-951X-157. PMID: 33179621Free PMC Article
Celiac Disease and Nonceliac Gluten Sensitivity.
Watkins RD, Zawahir S
Pediatr Clin North Am 2017 Jun;64(3):563-576. doi: 10.1016/j.pcl.2017.01.013. PMID: 28502438
Gluten ataxia.
Hadjivassiliou M, Sanders DS, Woodroofe N, Williamson C, Grünewald RA
Cerebellum 2008;7(3):494-8. doi: 10.1007/s12311-008-0052-x. PMID: 18787912

Therapy

Relationship between gluten availability and celiac disease prevalence: A geo-epidemiologic systematic review.
Jansson-Knodell CL, Celdir MG, Hujoel IA, Lyu R, Gardinier D, Weekley K, Prokop LJ, Rubio-Tapia A
J Gastroenterol Hepatol 2023 Oct;38(10):1695-1709. Epub 2023 Jun 18 doi: 10.1111/jgh.16260. PMID: 37332011
Causal association between celiac disease and inflammatory bowel disease: A two-sample bidirectional Mendelian randomization study.
Yuan S, Kim JH, Xu P, Wang Z
Front Immunol 2022;13:1057253. Epub 2023 Jan 4 doi: 10.3389/fimmu.2022.1057253. PMID: 36685511Free PMC Article
Advances in Celiac Disease and Gluten-Free Diet.
Comino I, Sousa C
Nutrients 2022 Jan 28;14(3) doi: 10.3390/nu14030570. PMID: 35276929Free PMC Article
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G
JAMA Oncol 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945. PMID: 28241208Free PMC Article
Celiac disease.
Williamson D, Marsh MN
Mol Biotechnol 2002 Nov;22(3):293-9. doi: 10.1385/MB:22:3:293. PMID: 12448883

Prognosis

Co-factors, Microbes, and Immunogenetics in Celiac Disease to Guide Novel Approaches for Diagnosis and Treatment.
Verdu EF, Schuppan D
Gastroenterology 2021 Nov;161(5):1395-1411.e4. Epub 2021 Aug 17 doi: 10.1053/j.gastro.2021.08.016. PMID: 34416277
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K
Nature 2020 Aug;584(7822):619-623. Epub 2020 Jun 24 doi: 10.1038/s41586-020-2436-0. PMID: 32581359
Autoantibodies in the Extraintestinal Manifestations of Celiac Disease.
Yu XB, Uhde M, Green PH, Alaedini A
Nutrients 2018 Aug 20;10(8) doi: 10.3390/nu10081123. PMID: 30127251Free PMC Article
Celiac disease screening in southern and East Asia.
Makharia GK
Dig Dis 2015;33(2):167-174. Epub 2015 Apr 22 doi: 10.1159/000369537. PMID: 25925919
Hashimoto's Thyroiditis.
Lorini R, Gastaldi R, Traggiai C, Perucchin PP
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:205-11; discussion 211. PMID: 16444160

Clinical prediction guides

The causal relationship between multiple autoimmune diseases and nasal polyps.
Chen S, Tan L, Qin D, Lv H, Liu K, Xu Y, Wu X, Huang J, Xu Y
Front Immunol 2023;14:1228226. Epub 2023 Aug 24 doi: 10.3389/fimmu.2023.1228226. PMID: 37691921Free PMC Article
Cellular and molecular bases of refractory celiac disease.
Soderquist CR, Bhagat G
Int Rev Cell Mol Biol 2021;358:207-240. Epub 2021 Feb 13 doi: 10.1016/bs.ircmb.2020.12.001. PMID: 33707055
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K
Nature 2020 Aug;584(7822):619-623. Epub 2020 Jun 24 doi: 10.1038/s41586-020-2436-0. PMID: 32581359
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G
JAMA Oncol 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945. PMID: 28241208Free PMC Article
Hashimoto's Thyroiditis.
Lorini R, Gastaldi R, Traggiai C, Perucchin PP
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:205-11; discussion 211. PMID: 16444160

Recent systematic reviews

Relationship between gluten availability and celiac disease prevalence: A geo-epidemiologic systematic review.
Jansson-Knodell CL, Celdir MG, Hujoel IA, Lyu R, Gardinier D, Weekley K, Prokop LJ, Rubio-Tapia A
J Gastroenterol Hepatol 2023 Oct;38(10):1695-1709. Epub 2023 Jun 18 doi: 10.1111/jgh.16260. PMID: 37332011
Systematic review and meta-analysis of the association between IL18RAP rs917997 and CCR3 rs6441961 polymorphisms with celiac disease risks.
Yang G, Zhang B, Huang W, Zhang N, Dong F, Jing L, Wang M, Liu Y, Guo C, Pan H, Wei X, Jing C
Expert Rev Gastroenterol Hepatol 2015;9(10):1327-38. Epub 2015 Aug 8 doi: 10.1586/17474124.2015.1075880. PMID: 26289103
Disease Beyond the Arch: A Systematic Review of Middle Aortic Syndrome in Childhood.
Rumman RK, Nickel C, Matsuda-Abedini M, Lorenzo AJ, Langlois V, Radhakrishnan S, Amaral J, Mertens L, Parekh RS
Am J Hypertens 2015 Jul;28(7):833-46. Epub 2015 Jan 27 doi: 10.1093/ajh/hpu296. PMID: 25631383
Systematic review: worldwide variation in the frequency of coeliac disease and changes over time.
Kang JY, Kang AH, Green A, Gwee KA, Ho KY
Aliment Pharmacol Ther 2013 Aug;38(3):226-45. Epub 2013 Jun 18 doi: 10.1111/apt.12373. PMID: 23782240
The neurology of coeliac disease in childhood: what is the evidence? A systematic review and meta-analysis.
Lionetti E, Francavilla R, Pavone P, Pavone L, Francavilla T, Pulvirenti A, Giugno R, Ruggieri M
Dev Med Child Neurol 2010 Aug;52(8):700-7. Epub 2010 Mar 19 doi: 10.1111/j.1469-8749.2010.03647.x. PMID: 20345955

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