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Celiac disease, susceptibility to, 8(CELIAC8)

MedGen UID:
394327
•Concept ID:
C2677606
•
Finding
Synonyms: Celiac disease 8; CELIAC8; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 8
 
Monarch Initiative: MONDO:0012777
OMIM®: 612006

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

Celiac Disease: A Review from Genetic to Treatment.
Jafari E, Soleymani N, Hamidi M, Rahi A, Rezaei A, Azizian R
Iran Biomed J 2024 Jan 1;28(1):8-14. Epub 2023 Dec 2 doi: 10.61186/ibj.4028. PMID: 38444380Free PMC Article
Interplay between Type 1 Diabetes Mellitus and Celiac Disease: Implications in Treatment.
Kaur N, Bhadada SK, Minz RW, Dayal D, Kochhar R
Dig Dis 2018;36(6):399-408. Epub 2018 Jul 25 doi: 10.1159/000488670. PMID: 30045024
Current Management of Pediatric Vitiligo.
Van Driessche F, Silverberg N
Paediatr Drugs 2015 Aug;17(4):303-13. doi: 10.1007/s40272-015-0135-3. PMID: 26022363

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
Review article: Epidemiology of coeliac disease.
Makharia GK, Chauhan A, Singh P, Ahuja V
Aliment Pharmacol Ther 2022 Jul;56 Suppl 1:S3-S17. doi: 10.1111/apt.16787. PMID: 35815830
Celiac Disease Screening for High-Risk Groups: Are We Doing It Right?
Kumral D, Syed S
Dig Dis Sci 2020 Aug;65(8):2187-2195. doi: 10.1007/s10620-020-06352-w. PMID: 32504350
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
Microbiome and Gluten.
Sanz Y
Ann Nutr Metab 2015;67 Suppl 2:28-41. Epub 2015 Nov 26 doi: 10.1159/000440991. PMID: 26605783

Diagnosis

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
Immunopathogenesis and therapeutic approaches in pediatric celiac disease.
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
Fetal and neonatal outcome in celiac disease.
Suciu N, Pop L, Panaitescu E, Suciu ID, Popp A, Anca I
J Matern Fetal Neonatal Med 2014 May;27(8):851-5. Epub 2013 Nov 15 doi: 10.3109/14767058.2013.839650. PMID: 23998909
Celiac disease: a model disease for gene-environment interaction.
Uibo R, Tian Z, Gershwin ME
Cell Mol Immunol 2011 Mar;8(2):93-5. Epub 2011 Feb 14 doi: 10.1038/cmi.2010.62. PMID: 21317918Free PMC Article
Novel trends in celiac disease.
Matthias T, Neidhöfer S, Pfeiffer S, Prager K, Reuter S, Gershwin ME
Cell Mol Immunol 2011 Mar;8(2):121-5. Epub 2011 Jan 31 doi: 10.1038/cmi.2010.68. PMID: 21278765Free PMC Article

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
Novel Nondietary Therapies for Celiac Disease.
Alhassan E, Yadav A, Kelly CP, Mukherjee R
Cell Mol Gastroenterol Hepatol 2019;8(3):335-345. Epub 2019 May 27 doi: 10.1016/j.jcmgh.2019.04.017. PMID: 31146067Free 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
Microbiome and Gluten.
Sanz Y
Ann Nutr Metab 2015;67 Suppl 2:28-41. Epub 2015 Nov 26 doi: 10.1159/000440991. PMID: 26605783
Current Management of Pediatric Vitiligo.
Van Driessche F, Silverberg N
Paediatr Drugs 2015 Aug;17(4):303-13. doi: 10.1007/s40272-015-0135-3. PMID: 26022363

Prognosis

Incidence of Pediatric Celiac Disease Varies by Region.
Stahl M, Li Q, Lynch K, Koletzko S, Mehta P, Gragert L, Norris JM, Andrén Aronsson C, Lindfors K, Kurppa K, Ilonen J, Krischer J, Alkolkar B, Ziegler AG, Toppari J, Rewers MJ, Agardh D, Hagopian W, Liu E; TEDDY Study Group
Am J Gastroenterol 2023 Mar 1;118(3):539-545. Epub 2022 Oct 11 doi: 10.14309/ajg.0000000000002056. PMID: 36219178Free PMC Article
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
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
Interplay between Type 1 Diabetes Mellitus and Celiac Disease: Implications in Treatment.
Kaur N, Bhadada SK, Minz RW, Dayal D, Kochhar R
Dig Dis 2018;36(6):399-408. Epub 2018 Jul 25 doi: 10.1159/000488670. PMID: 30045024
Fetal and neonatal outcome in celiac disease.
Suciu N, Pop L, Panaitescu E, Suciu ID, Popp A, Anca I
J Matern Fetal Neonatal Med 2014 May;27(8):851-5. Epub 2013 Nov 15 doi: 10.3109/14767058.2013.839650. PMID: 23998909

Clinical prediction guides

Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene.
Hernangomez-Laderas A, Cilleros-Portet A, Martínez Velasco S, Marí S, Legarda M, González-García BP, Tutau C, García-Santisteban I, Irastorza I, Fernandez-Jimenez N, Bilbao JR
Biol Sex Differ 2023 Dec 11;14(1):86. doi: 10.1186/s13293-023-00572-1. PMID: 38072919Free PMC Article
Does cystic fibrosis make susceptible to celiac disease?
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
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
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
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
Gluten in pharmaceutical products: a scoping review.
Lizano-Díez I, Mariño EL, Modamio P
Syst Rev 2021 Aug 7;10(1):218. doi: 10.1186/s13643-021-01772-9. PMID: 34364399Free PMC Article
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
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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