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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

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
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
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

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
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
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K
Nature 2020 Aug;584(7822):619-623. Epub 2020 Jun 24 doi: 10.1038/s41586-020-2436-0. PMID: 32581359
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
Sanz Y
Ann Nutr Metab 2015;67 Suppl 2:28-41. Epub 2015 Nov 26 doi: 10.1159/000440991. PMID: 26605783

Diagnosis

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
Abadie V, Khosla C, Jabri B
Curr Protoc 2022 Aug;2(8):e515. doi: 10.1002/cpz1.515. PMID: 35994521Free PMC Article
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
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
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

Therapy

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
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
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
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
Sanz Y
Ann Nutr Metab 2015;67 Suppl 2:28-41. Epub 2015 Nov 26 doi: 10.1159/000440991. PMID: 26605783

Prognosis

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
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K
Nature 2020 Aug;584(7822):619-623. Epub 2020 Jun 24 doi: 10.1038/s41586-020-2436-0. PMID: 32581359
Yu XB, Uhde M, Green PH, Alaedini A
Nutrients 2018 Aug 20;10(8) doi: 10.3390/nu10081123. PMID: 30127251Free PMC Article
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
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

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
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
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K
Nature 2020 Aug;584(7822):619-623. Epub 2020 Jun 24 doi: 10.1038/s41586-020-2436-0. PMID: 32581359
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
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

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
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
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
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
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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