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Celiac disease, susceptibility to, 4(CELIAC4)

MedGen UID:
346679
•Concept ID:
C1857847
•
Finding
Synonyms: Celiac disease 4; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4
 
Gene (location): MYO9B (19p13.11)
 
Monarch Initiative: MONDO:0012339
OMIM®: 609753

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 phenotypic 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
Accuracy of Serological Screening for the Diagnosis of Celiac Disease in Type 1 Diabetes Children.
Girard C, De Percin A, Morin C, Talvard M, Fortenfant F, Congy-Jolivet N, Le Tallec C, Olives JP, Mas E
Medicina (Kaunas) 2023 Jul 18;59(7) doi: 10.3390/medicina59071321. PMID: 37512132Free PMC Article
Autoimmune diseases and celiac disease which came first: genotype or gluten?
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

Celiac disease: From genetics to epigenetics.
Gnodi E, Meneveri R, Barisani D
World J Gastroenterol 2022 Jan 28;28(4):449-463. doi: 10.3748/wjg.v28.i4.449. PMID: 35125829Free PMC Article
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
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
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
HLA-Cw6 and psoriasis.
Chen L, Tsai TF
Br J Dermatol 2018 Apr;178(4):854-862. Epub 2018 Mar 2 doi: 10.1111/bjd.16083. PMID: 29072309
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

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: From genetics to epigenetics.
Gnodi E, Meneveri R, Barisani D
World J Gastroenterol 2022 Jan 28;28(4):449-463. doi: 10.3748/wjg.v28.i4.449. PMID: 35125829Free PMC Article
Celiac Disease and Gluten Sensitivity.
DeGeorge KC, Frye JW, Stein KM, Rollins LK, McCarter DF
Prim Care 2017 Dec;44(4):693-707. doi: 10.1016/j.pop.2017.07.011. PMID: 29132529
Autoimmune diseases and celiac disease which came first: genotype or gluten?
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
Biomarkers for diagnosis and monitoring of celiac disease.
Vives-Pi M, Takasawa S, Pujol-Autonell I, Planas R, Cabre E, Ojanguren I, Montraveta M, Santos AL, Ruiz-Ortiz E
J Clin Gastroenterol 2013 Apr;47(4):308-13. doi: 10.1097/MCG.0b013e31827874e3. PMID: 23388848

Therapy

Celiac Disease and Possible Dietary Interventions: From Enzymes and Probiotics to Postbiotics and Viruses.
Wagh SK, Lammers KM, Padul MV, Rodriguez-Herrera A, Dodero VI
Int J Mol Sci 2022 Oct 4;23(19) doi: 10.3390/ijms231911748. PMID: 36233048Free 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
Anti-Inflammatory and Immunomodulatory Effects of Probiotics in Gut Inflammation: A Door to the Body.
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
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
Autoimmune diseases and celiac disease which came first: genotype or gluten?
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

Prognosis

FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
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
HLA-Cw6 and psoriasis.
Chen L, Tsai TF
Br J Dermatol 2018 Apr;178(4):854-862. Epub 2018 Mar 2 doi: 10.1111/bjd.16083. PMID: 29072309
Biomarkers for diagnosis and monitoring of celiac disease.
Vives-Pi M, Takasawa S, Pujol-Autonell I, Planas R, Cabre E, Ojanguren I, Montraveta M, Santos AL, Ruiz-Ortiz E
J Clin Gastroenterol 2013 Apr;47(4):308-13. doi: 10.1097/MCG.0b013e31827874e3. PMID: 23388848
Refractory celiac disease: from bench to bedside.
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
Hashimoto's Thyroiditis.
Lorini R, Gastaldi R, Traggiai C, Perucchin PP
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:205-11; discussion 211. PMID: 16444160

Clinical prediction guides

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
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
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
HLA-Cw6 and psoriasis.
Chen L, Tsai TF
Br J Dermatol 2018 Apr;178(4):854-862. Epub 2018 Mar 2 doi: 10.1111/bjd.16083. PMID: 29072309
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
Hashimoto's Thyroiditis.
Lorini R, Gastaldi R, Traggiai C, Perucchin PP
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:205-11; discussion 211. PMID: 16444160

Recent systematic reviews

Systematic review and meta-analysis of the association between IL18RAP rs917997 and CCR3 rs6441961 polymorphisms with celiac disease risks.
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
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
Celiac disease--prevention strategies through early infant nutrition.
Chmielewska A, Szajewska H, Shamir R
World Rev Nutr Diet 2013;108:91-7. Epub 2013 Sep 6 doi: 10.1159/000351491. PMID: 24029792
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
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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