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Celiac disease, susceptibility to, 11(CELIAC11)

MedGen UID:
393782
•Concept ID:
C2677603
•
Finding
Synonyms: Celiac disease 11; CELIAC11; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 11
 
Monarch Initiative: MONDO:0012780
OMIM®: 612009

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

Attitudes Toward Genetic Testing for Celiac Disease.
Roy A, Pallai M, Lebwohl B, Taylor AK, Green PH
J Genet Couns 2016 Apr;25(2):270-8. Epub 2015 Aug 2 doi: 10.1007/s10897-015-9867-z. PMID: 26233331Free PMC Article
Celiac disease in pediatric patients with autoimmune hepatitis: etiology, diagnosis, and management.
Panetta F, Nobili V, Sartorelli MR, Papa RE, Ferretti F, Alterio A, Diamanti A
Paediatr Drugs 2012 Feb 1;14(1):35-41. doi: 10.2165/11593150-000000000-00000. PMID: 22149550
Pharmacotherapy and management strategies for coeliac disease.
Donnelly SC, Ellis HJ, Ciclitira PJ
Expert Opin Pharmacother 2011 Aug;12(11):1731-44. Epub 2011 Jul 1 doi: 10.1517/14656566.2011.592140. PMID: 21718231

Recent clinical studies

Etiology

Transition of Care in Celiac Disease.
Singh SK, Srivastava A
Indian J Pediatr 2023 Nov;90(11):1142-1148. Epub 2023 Jun 5 doi: 10.1007/s12098-023-04611-y. PMID: 37273133
Association Between Celiac Disease and Cancer.
Marafini I, Monteleone G, Stolfi C
Int J Mol Sci 2020 Jun 10;21(11) doi: 10.3390/ijms21114155. PMID: 32532079Free PMC Article
Pediatric Celiac Disease in Central and East Asia: Current Knowledge and Prevalence.
Poddighe D, Rakhimzhanova M, Marchenko Y, Catassi C
Medicina (Kaunas) 2019 Jan 12;55(1) doi: 10.3390/medicina55010011. PMID: 30642036Free PMC Article
Recent advances in pediatric celiac disease.
Lee GJ, Kao JY
Expert Rev Gastroenterol Hepatol 2017 Jun;11(6):583-592. Epub 2017 Mar 28 doi: 10.1080/17474124.2017.1309288. PMID: 28317399
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

Role of genetics in eleven of the most common autoimmune diseases in the post genome-wide association studies era.
Ali FHM, Smatti MK, Elrayess MA, Al Thani AA, Yassine HM
Eur Rev Med Pharmacol Sci 2023 Sep;27(18):8463-8485. doi: 10.26355/eurrev_202309_33772. PMID: 37782163
Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients.
Tamai T, Ihara K
Int J Mol Sci 2023 Jan 20;24(3) doi: 10.3390/ijms24032075. PMID: 36768398Free PMC Article
Pediatric Celiac Disease in Central and East Asia: Current Knowledge and Prevalence.
Poddighe D, Rakhimzhanova M, Marchenko Y, Catassi C
Medicina (Kaunas) 2019 Jan 12;55(1) doi: 10.3390/medicina55010011. PMID: 30642036Free PMC Article
Thyroid and celiac disease in pediatric age: a literature review.
Minelli R, Gaiani F, Kayali S, Di Mario F, Fornaroli F, Leandro G, Nouvenne A, Vincenzi F, De' Angelis GL
Acta Biomed 2018 Dec 17;89(9-S):11-16. doi: 10.23750/abm.v89i9-S.7872. PMID: 30561390Free PMC Article
Recent advances in pediatric celiac disease.
Lee GJ, Kao JY
Expert Rev Gastroenterol Hepatol 2017 Jun;11(6):583-592. Epub 2017 Mar 28 doi: 10.1080/17474124.2017.1309288. PMID: 28317399

Therapy

Transition of Care in Celiac Disease.
Singh SK, Srivastava A
Indian J Pediatr 2023 Nov;90(11):1142-1148. Epub 2023 Jun 5 doi: 10.1007/s12098-023-04611-y. PMID: 37273133
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Liu L, Khan A, Sanchez-Rodriguez E, Zanoni F, Li Y, Steers N, Balderes O, Zhang J, Krithivasan P, LeDesma RA, Fischman C, Hebbring SJ, Harley JB, Moncrieffe H, Kottyan LC, Namjou-Khales B, Walunas TL, Knevel R, Raychaudhuri S, Karlson EW, Denny JC, Stanaway IB, Crosslin D, Rauen T, Floege J, Eitner F, Moldoveanu Z, Reily C, Knoppova B, Hall S, Sheff JT, Julian BA, Wyatt RJ, Suzuki H, Xie J, Chen N, Zhou X, Zhang H, Hammarström L, Viktorin A, Magnusson PKE, Shang N, Hripcsak G, Weng C, Rundek T, Elkind MSV, Oelsner EC, Barr RG, Ionita-Laza I, Novak J, Gharavi AG, Kiryluk K
Nat Commun 2022 Nov 11;13(1):6859. doi: 10.1038/s41467-022-34456-6. PMID: 36369178Free PMC Article
Negative Effects of a High-Fat Diet on Intestinal Permeability: A Review.
Rohr MW, Narasimhulu CA, Rudeski-Rohr TA, Parthasarathy S
Adv Nutr 2020 Jan 1;11(1):77-91. doi: 10.1093/advances/nmz061. PMID: 31268137Free PMC Article
Gluten-Free Diet: Gaps and Needs for a Healthier Diet.
Melini V, Melini F
Nutrients 2019 Jan 15;11(1) doi: 10.3390/nu11010170. PMID: 30650530Free 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

Prognosis

Body composition in pediatric celiac disease and metabolic syndrome component risk-an observational study.
Yerushalmy-Feler A, Kassner O, Frank Y, Moran-Lev H, Anafy A, Levy D, Interator H, Elkon-Tamir E, Cohen S, Lebenthal Y, Brener A
Pediatr Res 2023 Aug;94(2):618-625. Epub 2023 Jan 27 doi: 10.1038/s41390-023-02496-3. PMID: 36707663
Recent advances in pediatric celiac disease.
Lee GJ, Kao JY
Expert Rev Gastroenterol Hepatol 2017 Jun;11(6):583-592. Epub 2017 Mar 28 doi: 10.1080/17474124.2017.1309288. PMID: 28317399
Rheumatoid arthritis-celiac disease relationship: joints get that gut feeling.
Lerner A, Matthias T
Autoimmun Rev 2015 Nov;14(11):1038-47. Epub 2015 Jul 17 doi: 10.1016/j.autrev.2015.07.007. PMID: 26190704
Celiac disease in Middle Eastern and North African countries: a new burden?
Barada K, Bitar A, Mokadem MA, Hashash JG, Green P
World J Gastroenterol 2010 Mar 28;16(12):1449-57. doi: 10.3748/wjg.v16.i12.1449. PMID: 20333784Free 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

Clinical prediction guides

PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders.
Topaloudi A, Jain P, Martinez MB, Bryant JK, Reynolds G, Zagoriti Z, Lagoumintzis G, Zamba-Papanicolaou E, Tzartos J, Poulas K, Kleopa KA, Tzartos S, Georgitsi M, Drineas P, Paschou P
Front Immunol 2023;14:1147573. Epub 2023 Sep 21 doi: 10.3389/fimmu.2023.1147573. PMID: 37809097Free PMC Article
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Liu L, Khan A, Sanchez-Rodriguez E, Zanoni F, Li Y, Steers N, Balderes O, Zhang J, Krithivasan P, LeDesma RA, Fischman C, Hebbring SJ, Harley JB, Moncrieffe H, Kottyan LC, Namjou-Khales B, Walunas TL, Knevel R, Raychaudhuri S, Karlson EW, Denny JC, Stanaway IB, Crosslin D, Rauen T, Floege J, Eitner F, Moldoveanu Z, Reily C, Knoppova B, Hall S, Sheff JT, Julian BA, Wyatt RJ, Suzuki H, Xie J, Chen N, Zhou X, Zhang H, Hammarström L, Viktorin A, Magnusson PKE, Shang N, Hripcsak G, Weng C, Rundek T, Elkind MSV, Oelsner EC, Barr RG, Ionita-Laza I, Novak J, Gharavi AG, Kiryluk K
Nat Commun 2022 Nov 11;13(1):6859. doi: 10.1038/s41467-022-34456-6. PMID: 36369178Free PMC Article
Recent advances in pediatric celiac disease.
Lee GJ, Kao JY
Expert Rev Gastroenterol Hepatol 2017 Jun;11(6):583-592. Epub 2017 Mar 28 doi: 10.1080/17474124.2017.1309288. PMID: 28317399
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

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
Mood Disorders and Gluten: It's Not All in Your Mind! A Systematic Review with Meta-Analysis.
Busby E, Bold J, Fellows L, Rostami K
Nutrients 2018 Nov 8;10(11) doi: 10.3390/nu10111708. PMID: 30413036Free PMC Article
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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