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Celiac disease, susceptibility to, 12(CELIAC12)

MedGen UID:
436989
Concept ID:
C2677602
Finding
Synonyms: Celiac disease 12; CELIAC12; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 12
 
Monarch Initiative: MONDO:0012781
OMIM®: 612010

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

Wei G, Helmerhorst EJ, Darwish G, Blumenkranz G, Schuppan D
Nutrients 2020 Jul 15;12(7) doi: 10.3390/nu12072095. PMID: 32679754Free PMC Article
Centanni M, Benvenga S, Sachmechi I
J Endocrinol Invest 2017 Dec;40(12):1289-1301. Epub 2017 Jul 10 doi: 10.1007/s40618-017-0706-y. PMID: 28695483Free PMC Article
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

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
Auricchio R, Troncone R
Front Immunol 2021;12:672148. Epub 2021 May 14 doi: 10.3389/fimmu.2021.672148. PMID: 34054850Free PMC Article
Emiralioglu N, Ademhan Tural D, Hizarcioglu Gulsen H, Ergen YM, Ozsezen B, Sunman B, Saltık Temizel İ, Yalcin E, Dogru D, Ozcelik U, Kiper N
Eur J Pediatr 2021 Sep;180(9):2807-2813. Epub 2021 Mar 25 doi: 10.1007/s00431-021-04011-4. PMID: 33765186
Centanni M, Benvenga S, Sachmechi I
J Endocrinol Invest 2017 Dec;40(12):1289-1301. Epub 2017 Jul 10 doi: 10.1007/s40618-017-0706-y. PMID: 28695483Free PMC Article
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

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
Wei G, Helmerhorst EJ, Darwish G, Blumenkranz G, Schuppan D
Nutrients 2020 Jul 15;12(7) doi: 10.3390/nu12072095. PMID: 32679754Free PMC Article
Centanni M, Benvenga S, Sachmechi I
J Endocrinol Invest 2017 Dec;40(12):1289-1301. Epub 2017 Jul 10 doi: 10.1007/s40618-017-0706-y. PMID: 28695483Free PMC Article
Agarwal S, Kovilam O, Zach TL, Agrawal DK
Expert Rev Clin Immunol 2016 Aug;12(8):857-69. Epub 2016 Apr 1 doi: 10.1586/1744666X.2016.1168294. PMID: 26999328Free PMC Article
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

Therapy

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
Cristofori F, Dargenio VN, Dargenio C, Miniello VL, Barone M, Francavilla R
Front Immunol 2021;12:578386. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.578386. PMID: 33717063Free PMC Article
Wei G, Helmerhorst EJ, Darwish G, Blumenkranz G, Schuppan D
Nutrients 2020 Jul 15;12(7) doi: 10.3390/nu12072095. PMID: 32679754Free PMC Article
García-Santisteban I, Cilleros-Portet A, Moyua-Ormazabal E, Kurilshikov A, Zhernakova A, Garcia-Etxebarria K, Fernandez-Jimenez N, Bilbao JR
Nutrients 2020 May 14;12(5) doi: 10.3390/nu12051420. PMID: 32423041Free PMC Article
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

Hård Af Segerstad EM, Liu X, Uusitalo U, Agardh D, Andrén Aronsson C; TEDDY Study Group
Am J Clin Nutr 2022 Aug 4;116(2):394-403. doi: 10.1093/ajcn/nqac086. PMID: 35394004Free PMC Article
Auricchio R, Troncone R
Front Immunol 2021;12:672148. Epub 2021 May 14 doi: 10.3389/fimmu.2021.672148. PMID: 34054850Free PMC Article
Hsieh MS, Hsu WH, Wang JW, Wang YK, Hu HM, Chang WK, Chen CY, Wu DC, Kuo FC, Su WW
J Formos Med Assoc 2020 Dec;119(12):1742-1749. Epub 2019 Oct 14 doi: 10.1016/j.jfma.2019.09.005. PMID: 31624009
Malamut G, Meresse B, Cellier C, Cerf-Bensussan N
Semin Immunopathol 2012 Jul;34(4):601-13. Epub 2012 Jul 19 doi: 10.1007/s00281-012-0322-z. PMID: 22810901
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

Clinical prediction guides

Auricchio R, Troncone R
Front Immunol 2021;12:672148. Epub 2021 May 14 doi: 10.3389/fimmu.2021.672148. PMID: 34054850Free PMC Article
Emiralioglu N, Ademhan Tural D, Hizarcioglu Gulsen H, Ergen YM, Ozsezen B, Sunman B, Saltık Temizel İ, Yalcin E, Dogru D, Ozcelik U, Kiper N
Eur J Pediatr 2021 Sep;180(9):2807-2813. Epub 2021 Mar 25 doi: 10.1007/s00431-021-04011-4. PMID: 33765186
Moya DA, Nugent CA, Baker RD, Baker SS
Clin Pediatr (Phila) 2020 Jun;59(7):649-655. Epub 2020 Mar 24 doi: 10.1177/0009922820912216. PMID: 32207323
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
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

Recent systematic reviews

Poddighe D, Rebuffi C, De Silvestri A, Capittini C
World J Gastroenterol 2020 Mar 28;26(12):1365-1381. doi: 10.3748/wjg.v26.i12.1365. PMID: 32256023Free PMC Article
Rouvroye MD, Zis P, Van Dam AM, Rozemuller AJM, Bouma G, Hadjivassiliou M
Nutrients 2020 Mar 20;12(3) doi: 10.3390/nu12030822. PMID: 32244870Free PMC Article
Picascia S, Mandile R, Auricchio R, Troncone R, Gianfrani C
Nutrients 2015 Dec 2;7(12):10020-31. doi: 10.3390/nu7125515. PMID: 26633487Free PMC Article
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
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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