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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 phenotypic information and a discussion of genetic heterogeneity of celiac disease, see 212750. [from OMIM]

Professional guidelines

PubMed

Updated joint ESPGHAN/NASPGHAN guidelines for management of Helicobacter pylori infection in children and adolescents (2023).
Homan M, Jones NL, Bontems P, Carroll MW, Czinn SJ, Gold BD, Goodman K, Harris PR, Jerris R, Kalach N, Kori M, Megraud F, Rowland M, Tavares M; on behalf of ESPGHAN/NASPGHAN
J Pediatr Gastroenterol Nutr 2024 Sep;79(3):758-785. Epub 2024 Aug 15 doi: 10.1002/jpn3.12314. PMID: 39148213
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

Recent clinical studies

Etiology

Updated joint ESPGHAN/NASPGHAN guidelines for management of Helicobacter pylori infection in children and adolescents (2023).
Homan M, Jones NL, Bontems P, Carroll MW, Czinn SJ, Gold BD, Goodman K, Harris PR, Jerris R, Kalach N, Kori M, Megraud F, Rowland M, Tavares M; on behalf of ESPGHAN/NASPGHAN
J Pediatr Gastroenterol Nutr 2024 Sep;79(3):758-785. Epub 2024 Aug 15 doi: 10.1002/jpn3.12314. PMID: 39148213
Genetic association between celiac disease and chronic kidney disease: a two-sample Mendelian randomization study.
Chen Z, Zheng Z, Jiang B, Xu Y
Ren Fail 2024 Dec;46(2):2357246. Epub 2024 Jun 4 doi: 10.1080/0886022X.2024.2357246. PMID: 38832490Free PMC Article
Celiac Disease-Related Conditions: Who to Test?
Zingone F, Bai JC, Cellier C, Ludvigsson JF
Gastroenterology 2024 Jun;167(1):64-78. Epub 2024 Mar 7 doi: 10.1053/j.gastro.2024.02.044. PMID: 38460606
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
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

Updated joint ESPGHAN/NASPGHAN guidelines for management of Helicobacter pylori infection in children and adolescents (2023).
Homan M, Jones NL, Bontems P, Carroll MW, Czinn SJ, Gold BD, Goodman K, Harris PR, Jerris R, Kalach N, Kori M, Megraud F, Rowland M, Tavares M; on behalf of ESPGHAN/NASPGHAN
J Pediatr Gastroenterol Nutr 2024 Sep;79(3):758-785. Epub 2024 Aug 15 doi: 10.1002/jpn3.12314. PMID: 39148213
Celiac Disease-Related Conditions: Who to Test?
Zingone F, Bai JC, Cellier C, Ludvigsson JF
Gastroenterology 2024 Jun;167(1):64-78. Epub 2024 Mar 7 doi: 10.1053/j.gastro.2024.02.044. PMID: 38460606
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
A Mouse Model of Celiac Disease.
Abadie V, Khosla C, Jabri B
Curr Protoc 2022 Aug;2(8):e515. doi: 10.1002/cpz1.515. PMID: 35994521Free 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

Therapy

Updated joint ESPGHAN/NASPGHAN guidelines for management of Helicobacter pylori infection in children and adolescents (2023).
Homan M, Jones NL, Bontems P, Carroll MW, Czinn SJ, Gold BD, Goodman K, Harris PR, Jerris R, Kalach N, Kori M, Megraud F, Rowland M, Tavares M; on behalf of ESPGHAN/NASPGHAN
J Pediatr Gastroenterol Nutr 2024 Sep;79(3):758-785. Epub 2024 Aug 15 doi: 10.1002/jpn3.12314. PMID: 39148213
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
Familial gluten ataxia.
Hernández-Lahoz C, Rodrigo-Sáez L, Vega-Villar J, Mauri-Capdevila G, Mier-Juanes J
Mov Disord 2014 Mar;29(3):308-10. Epub 2013 Dec 27 doi: 10.1002/mds.25783. PMID: 24375771
Celiac disease.
Williamson D, Marsh MN
Mol Biotechnol 2002 Nov;22(3):293-9. doi: 10.1385/MB:22:3:293. PMID: 12448883

Prognosis

Autoimmune Diseases and Risk of Non-Hodgkin Lymphoma: A Mendelian Randomisation Study.
Shi X, Wallach JD, Ma X, Rogne T
Cancer Med 2024 Nov;13(21):e70327. doi: 10.1002/cam4.70327. PMID: 39506244Free 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
First-degree relatives of celiac patients: are they at an increased risk of developing celiac disease?
Biagi F, Corazza GR
J Clin Gastroenterol 2009 Jan;43(1):3-4. doi: 10.1097/MCG.0b013e31818ca609. PMID: 19020460
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
Advances in celiac disease.
Shamir R
Gastroenterol Clin North Am 2003 Sep;32(3):931-47. doi: 10.1016/s0889-8553(03)00061-x. PMID: 14562582

Clinical prediction guides

Genetic association between celiac disease and chronic kidney disease: a two-sample Mendelian randomization study.
Chen Z, Zheng Z, Jiang B, Xu Y
Ren Fail 2024 Dec;46(2):2357246. Epub 2024 Jun 4 doi: 10.1080/0886022X.2024.2357246. PMID: 38832490Free 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
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 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

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
ASSOCIATION OF TNF- α-308G>A POLYMORPHISM WITH SUSCEPTIBILITY TO CELIAC DISEASE: A SYSTEMATIC REVIEW AND META-ANALYSIS.
Aflatoonian M, Moghimi M, Akbarian-Bafghi MJ, Morovati-Sharifabad M, Jarahzadeh MH, Neamatzadeh H
Arq Gastroenterol 2019 May 20;56(1):88-94. doi: 10.1590/S0004-2803.201900000-20. PMID: 31141070
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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