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Celiac disease, susceptibility to, 7(CELIAC7)

MedGen UID:
394328
•Concept ID:
C2677607
•
Finding
Synonyms: Celiac disease 7; CELIAC7; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 7
 
Monarch Initiative: MONDO:0012776
OMIM®: 612005

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

Gluten Degrading Enzymes for Treatment of Celiac Disease.
Wei G, Helmerhorst EJ, Darwish G, Blumenkranz G, Schuppan D
Nutrients 2020 Jul 15;12(7) doi: 10.3390/nu12072095. PMID: 32679754Free PMC Article
HLA-DQ distribution and risk assessment of celiac disease in a Spanish center.
Martínez-Ojinaga E, Molina M, Polanco I, Urcelay E, Núñez C
Rev Esp Enferm Dig 2018 Jul;110(7):421-426. doi: 10.17235/reed.2018.5399/2017. PMID: 29699404
The spectrum of celiac disease: epidemiology, clinical aspects and treatment.
Tack GJ, Verbeek WH, Schreurs MW, Mulder CJ
Nat Rev Gastroenterol Hepatol 2010 Apr;7(4):204-13. Epub 2010 Mar 9 doi: 10.1038/nrgastro.2010.23. PMID: 20212505

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
Celiac disease-on-chip: Modeling a multifactorial disease in vitro.
Moerkens R, Mooiweer J, Withoff S, Wijmenga C
United European Gastroenterol J 2019 May;7(4):467-476. Epub 2019 Mar 14 doi: 10.1177/2050640619836057. PMID: 31065364Free PMC Article
Coeliac disease.
Glissen Brown JR, Singh P
Paediatr Int Child Health 2019 Feb;39(1):23-31. Epub 2018 Aug 13 doi: 10.1080/20469047.2018.1504431. PMID: 30099930
Celiac Disease and Glandular Autoimmunity.
Kahaly GJ, Frommer L, Schuppan D
Nutrients 2018 Jun 25;10(7) doi: 10.3390/nu10070814. PMID: 29941778Free 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

Diagnosis

Gluten Degrading Enzymes for Treatment of Celiac Disease.
Wei G, Helmerhorst EJ, Darwish G, Blumenkranz G, Schuppan D
Nutrients 2020 Jul 15;12(7) doi: 10.3390/nu12072095. PMID: 32679754Free PMC Article
Coeliac disease.
Glissen Brown JR, Singh P
Paediatr Int Child Health 2019 Feb;39(1):23-31. Epub 2018 Aug 13 doi: 10.1080/20469047.2018.1504431. PMID: 30099930
Celiac Disease and Glandular Autoimmunity.
Kahaly GJ, Frommer L, Schuppan D
Nutrients 2018 Jun 25;10(7) doi: 10.3390/nu10070814. PMID: 29941778Free PMC Article
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
What causes celiac disease?
McGill M
Nursing 2005 Jul;35(7):29. doi: 10.1097/00152193-200507000-00023. PMID: 15988195

Therapy

Coeliac disease and type 2 diabetes risk: a nationwide matched cohort and Mendelian randomisation study.
Yuan S, Leffler D, Lebwohl B, Green PHR, Sun J, Carlsson S, Larsson SC, Ludvigsson JF
Diabetologia 2024 Aug;67(8):1630-1641. Epub 2024 May 21 doi: 10.1007/s00125-024-06175-8. PMID: 38772918Free PMC Article
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
Gluten Degrading Enzymes for Treatment of Celiac Disease.
Wei G, Helmerhorst EJ, Darwish G, Blumenkranz G, Schuppan D
Nutrients 2020 Jul 15;12(7) doi: 10.3390/nu12072095. PMID: 32679754Free PMC Article
Celiac Disease and Glandular Autoimmunity.
Kahaly GJ, Frommer L, Schuppan D
Nutrients 2018 Jun 25;10(7) doi: 10.3390/nu10070814. PMID: 29941778Free 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

HLA Genotyping in Children With Celiac Disease Allows to Establish the Risk of Developing Type 1 Diabetes.
Schirru E, Rossino R, Diana D, Jores RD, Baldera D, Muntoni S, Spiga C, Ripoli C, Ricciardi MR, Cucca F, Congia M
Clin Transl Gastroenterol 2024 Jul 1;15(7):e00710. doi: 10.14309/ctg.0000000000000710. PMID: 38713138Free PMC Article
Immunophenotypic Spectrum and Genomic Landscape of Refractory Celiac Disease Type II.
Soderquist CR, Lewis SK, Gru AA, Vlad G, Williams ES, Hsiao S, Mansukhani MM, Park DC, Bacchi CE, Alobeid B, Green PH, Bhagat G
Am J Surg Pathol 2021 Jul 1;45(7):905-916. doi: 10.1097/PAS.0000000000001658. PMID: 33544565
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.
Cerqueira JXM, Saavalainen P, Kurppa K, Laurikka P, Huhtala H, Nykter M, L E Koskinen L, Yohannes DA, Kilpeläinen E, Shcherban A, Palotie A, Kaukinen K, Lindfors K
J Hum Genet 2021 Jun;66(6):613-623. Epub 2021 Jan 15 doi: 10.1038/s10038-020-00888-5. PMID: 33446885Free PMC Article
Coeliac disease.
Glissen Brown JR, Singh P
Paediatr Int Child Health 2019 Feb;39(1):23-31. Epub 2018 Aug 13 doi: 10.1080/20469047.2018.1504431. PMID: 30099930
Novel diagnostic techniques for celiac disease.
Kurppa K, Taavela J, Saavalainen P, Kaukinen K, Lindfors K
Expert Rev Gastroenterol Hepatol 2016 Jul;10(7):795-805. Epub 2016 Feb 20 doi: 10.1586/17474124.2016.1148599. PMID: 26838683

Clinical prediction guides

The nature of genetic and environmental susceptibility to multiple sclerosis.
Goodin DS, Khankhanian P, Gourraud PA, Vince N
PLoS One 2021;16(3):e0246157. Epub 2021 Mar 22 doi: 10.1371/journal.pone.0246157. PMID: 33750973Free PMC Article
Coeliac disease.
Glissen Brown JR, Singh P
Paediatr Int Child Health 2019 Feb;39(1):23-31. Epub 2018 Aug 13 doi: 10.1080/20469047.2018.1504431. PMID: 30099930
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
Novel diagnostic techniques for celiac disease.
Kurppa K, Taavela J, Saavalainen P, Kaukinen K, Lindfors K
Expert Rev Gastroenterol Hepatol 2016 Jul;10(7):795-805. Epub 2016 Feb 20 doi: 10.1586/17474124.2016.1148599. PMID: 26838683
Prevalence of celiac disease in latin america: a systematic review and meta-regression.
Parra-Medina R, Molano-Gonzalez N, Rojas-Villarraga A, Agmon-Levin N, Arango MT, Shoenfeld Y, Anaya JM
PLoS One 2015;10(5):e0124040. Epub 2015 May 5 doi: 10.1371/journal.pone.0124040. PMID: 25942408Free PMC Article

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
Prevalence of celiac disease in latin america: a systematic review and meta-regression.
Parra-Medina R, Molano-Gonzalez N, Rojas-Villarraga A, Agmon-Levin N, Arango MT, Shoenfeld Y, Anaya JM
PLoS One 2015;10(5):e0124040. Epub 2015 May 5 doi: 10.1371/journal.pone.0124040. PMID: 25942408Free PMC Article
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: early infant feeding and the prevention of coeliac disease.
Szajewska H, Chmielewska A, Pieścik-Lech M, Ivarsson A, Kolacek S, Koletzko S, Mearin ML, Shamir R, Auricchio R, Troncone R; PREVENTCD Study Group
Aliment Pharmacol Ther 2012 Oct;36(7):607-18. Epub 2012 Aug 21 doi: 10.1111/apt.12023. PMID: 22905651

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