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Celiac disease, susceptibility to, 13(CELIAC13)

MedGen UID:
383149
•Concept ID:
C2677601
•
Finding
Synonyms: Celiac disease 13; CELIAC13; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13
 
Monarch Initiative: MONDO:0012782
OMIM®: 612011

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

Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
Montoro-Huguet MA, Santolaria-Piedrafita S, Cañamares-Orbis P, García-Erce JA
Nutrients 2021 Sep 28;13(10) doi: 10.3390/nu13103437. PMID: 34684433Free PMC Article
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
Small bowel adenocarcinoma: epidemiology, risk factors, diagnosis and treatment.
Aparicio T, Zaanan A, Svrcek M, Laurent-Puig P, Carrere N, Manfredi S, Locher C, Afchain P
Dig Liver Dis 2014 Feb;46(2):97-104. Epub 2013 Jun 21 doi: 10.1016/j.dld.2013.04.013. PMID: 23796552

Recent clinical studies

Etiology

Causal association between celiac disease and inflammatory bowel disease: A two-sample bidirectional Mendelian randomization study.
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
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
Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
Montoro-Huguet MA, Santolaria-Piedrafita S, Cañamares-Orbis P, García-Erce JA
Nutrients 2021 Sep 28;13(10) doi: 10.3390/nu13103437. PMID: 34684433Free 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
Osteoarticular manifestations of celiac disease and non-celiac gluten hypersensitivity.
Dos Santos S, Lioté F
Joint Bone Spine 2017 May;84(3):263-266. Epub 2016 Nov 4 doi: 10.1016/j.jbspin.2016.09.007. PMID: 27825568

Diagnosis

Causal relationships between autoimmune diseases and celiac disease: A Mendelian randomization analysis.
Li T, Feng Y, Wang C, Shi T, Huang X, Abuduhadeer M, Abudurexiti A, Zhang M, Gao F
Biotechnol Genet Eng Rev 2024 Dec;40(4):4611-4626. Epub 2023 May 23 doi: 10.1080/02648725.2023.2215039. PMID: 37219596
Causal association between celiac disease and inflammatory bowel disease: A two-sample bidirectional Mendelian randomization study.
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
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
Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
Montoro-Huguet MA, Santolaria-Piedrafita S, Cañamares-Orbis P, García-Erce JA
Nutrients 2021 Sep 28;13(10) doi: 10.3390/nu13103437. PMID: 34684433Free PMC Article
Osteoarticular manifestations of celiac disease and non-celiac gluten hypersensitivity.
Dos Santos S, Lioté F
Joint Bone Spine 2017 May;84(3):263-266. Epub 2016 Nov 4 doi: 10.1016/j.jbspin.2016.09.007. PMID: 27825568

Therapy

Causal association between celiac disease and inflammatory bowel disease: A two-sample bidirectional Mendelian randomization study.
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
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
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
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
Osteoarticular manifestations of celiac disease and non-celiac gluten hypersensitivity.
Dos Santos S, Lioté F
Joint Bone Spine 2017 May;84(3):263-266. Epub 2016 Nov 4 doi: 10.1016/j.jbspin.2016.09.007. PMID: 27825568

Prognosis

Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
Montoro-Huguet MA, Santolaria-Piedrafita S, Cañamares-Orbis P, García-Erce JA
Nutrients 2021 Sep 28;13(10) doi: 10.3390/nu13103437. PMID: 34684433Free PMC Article
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease.
Hrdlickova B, Mulder CJ, Malamut G, Meresse B, Platteel M, Kamatani Y, Ricaño-Ponce I, van Wanrooij RLJ, Zorro MM, Jan Bonder M, Gutierrez-Achury J, Cellier C, Zhernakova A, Nijeboer P, Galan P, Withoff S, Lathrop M, Bouma G, Xavier RJ, Jabri B, Bensussan NC, Wijmenga C, Kumar V
Eur J Gastroenterol Hepatol 2018 Aug;30(8):828-837. doi: 10.1097/MEG.0000000000001168. PMID: 29787419Free PMC Article
Respiratory Infections and the Risk of Celiac Disease.
Auricchio R, Cielo D, de Falco R, Galatola M, Bruno V, Malamisura B, Limongelli MG, Troncone R, Greco L
Pediatrics 2017 Oct;140(4) Epub 2017 Sep 6 doi: 10.1542/peds.2016-4102. PMID: 28877998
Allele and haplotype frequencies for HLA-DQ in Iranian celiac disease patients.
Rostami-Nejad M, Romanos J, Rostami K, Ganji A, Ehsani-Ardakani MJ, Bakhshipour AR, Zojaji H, Mohebbi SR, Zali MR, Wijmenga C
World J Gastroenterol 2014 May 28;20(20):6302-8. doi: 10.3748/wjg.v20.i20.6302. PMID: 24876751Free PMC Article
Small bowel adenocarcinoma: epidemiology, risk factors, diagnosis and treatment.
Aparicio T, Zaanan A, Svrcek M, Laurent-Puig P, Carrere N, Manfredi S, Locher C, Afchain P
Dig Liver Dis 2014 Feb;46(2):97-104. Epub 2013 Jun 21 doi: 10.1016/j.dld.2013.04.013. PMID: 23796552

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
Old and New Adjunctive Therapies in Celiac Disease and Refractory Celiac Disease: A Review.
Valvano M, Fabiani S, Monaco S, Calabrò M, Mancusi A, Frassino S, Rolandi C, Mosca M, Faenza S, Sgamma E, Cesaro N, Latella G
Int J Mol Sci 2023 Aug 15;24(16) doi: 10.3390/ijms241612800. PMID: 37628981Free 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
Iron Deficiency in Celiac Disease: Prevalence, Health Impact, and Clinical Management.
Montoro-Huguet MA, Santolaria-Piedrafita S, Cañamares-Orbis P, García-Erce JA
Nutrients 2021 Sep 28;13(10) doi: 10.3390/nu13103437. PMID: 34684433Free 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

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

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