Serologic screening and genetic testing among Brazilian patients with celiac disease and their first degree relatives

Arquivos de Gastroenterologia

Volumn 47, Issue 3, 2010, Pages 257-262

  Martins, Rita De Cássia Azevedo ^a   Gandolfi, Lenora ^a,b   Modelli, Inês Cristina ^a,b   De Almeida, Rodrigo Coutinho ^a   Castro, Luiz Claudio ^b   Pratesi, Riccardo ^a,b  

^a UNIVERSITY OF BRASILIA   (Brazil)

^b HOSPITAL UNIVERSITÁRIO DE BRASÍLIA   (Brazil)

Author keywords

Alleles; Celiac disease; Family; Genetic predisposition to disease; HLA antigens; Serological tests

Indexed keywords

HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DR ANTIGEN;

ADOLESCENT; ADULT; ARTICLE; BRAZIL; CELIAC DISEASE; CHILD; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INTESTINE BIOPSY; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PREVALENCE; RELATIVE; SCHOOL CHILD; SEROLOGY;

ADOLESCENT; ADULT; BRAZIL; CELIAC DISEASE; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; MALE; MASS SCREENING; MIDDLE AGED; PREVALENCE; YOUNG ADULT;

EID: 78649925335     PISSN: 00042803     EISSN: 16784219     Source Type: Journal    
DOI: 10.1590/S0004-28032010000300009     Document Type: Article

References (48)

1. Almeida PL, Gandolfi L, Modelli IC, Martins RC, Almeida RC, Pratesi R. Prevalence of celiac disease among first degree relatives of Brazilian celiac patients. Arq Gastroenterol. 2008;45:69-72.
2. Al-Toma A, Goerres MS, Meijer JW, Peña AS, Crusius JB, Mulder CJ. Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma. Clin Gastroenterol Hepatol. 2006;4:315-9. (Pubitemid 43343887)
3. Baudon JJ, Johanet C, Absalon YB, Morgant G, Cabrol S, Mougenot JF. Diagnosing celiac disease: a comparison of human tissue transglutaminase antibodies with antigliadin and antiendomysium antibodies. Arch Pediatr Adolesc Med. 2004;158:584-8. (Pubitemid 38720491)
4. Bevan S, Popat S, Braegger CP, Busch A, O'Donoghue D, Falth-Magnusson K, Ferguson A, Godkin A, Hogberg L, Holmes G, Hosie KB, Howdle PD, Jenkins H, Jewell D, Johnston S, Kennedy NP, Kerr G, Kumar P, Logan RF, Love AH, Marsh M, Mulder CJ, Sjoberg K, Stenhammer L, Walker-Smith J, Marossy AM, Houlston RS. Contribution of the MHC region to the familial risk of coeliac disease. J Med Genet. 1999;36:687-90.
5. Biagi F, Campanella J, Bianchi PI, Zanellati G, Capriglione I, Klersy C, Corazza GR. The incidence of coelic disease in adult first degree relatives. Dig Liver Dis. 2008;40:97-100.
6. Boger CP, Thomas PW, Nicholas DS, Surgenor SL, Snook JA. Determinants of endomysial antibody status in untreated coeliac disease. Eur J Gastroenterol Hepatol. 2007;19:890-5.
7. Bonamico M, Ferri M, Mariani P, Nenna R, Thanasi E, Luparia RP, Picarelli A, Magliocca FM, Mora B, Bardella MT, Verrienti A, Fiore B, Uccini S, Megiorni F, Mazzilli MC, Tiberti C. Serologic and genetic markers of celiac disease: a sequential study in the screening of first degree relatives. J Pediatr Gastroenterol Nutr. 2006;42:150-4.
8. Brandt KG, Silva GA. Seroprevalence of celiac disease at a general pediatric outpatient clinic. Arq Gastroenterol. 2008;45:239-42.
9. Bürgin-Wolff A, Gaze H, Hadziselimovic F, Huber H, Lentze MJ, Nusslé D, Reymond-Berthet C. Antigliadin and antiendomysium antibody determination for coeliac disease. Arch Dis Child. 1991;66:941-7.
10. Carroccio A, Vitale G, Di Prima L, Chifari N, Napoli S, La Russa C, Gulotta G, Averna MR, Montalto G, Mansueto S, Notarbartolo A. Comparison of anti-transglutaminase ELISAs and an anti-endomysial antibody assay in the diagnosis of celiac disease: a prospective study. Clin Chem. 2002;48:1546-50.
11. Catassi C, Cobellis, G. Coeliac disease epidemiology is alive and kicking, especially in the developing world. Dig Liver Dis. 2007;39:908-10.
12. Catassi C, Kryszak D, Louis-Jacques O, Duerksen DR, Hill I, Crowe SE, Brown AR, Procaccini NJ, Wonderly BA, Hartley P, Moreci J, Bennett N, Horvath K, Burk M, Fasano A. Detection of celiac disease in primary care: a multicenter case finding study in North America. Am J Gastroenterol. 2007;102:1454-60.
13. Chang M, Green PH. Genetic testing before serologic screening in relatives of patients with celiac disease as a cost containment method. J Clin Gastroenterol. 2009;43:43-50.
14. Collin P, Kaukinen K. Serologic screening for coeliac disease in risk groups: is once in the lifetime enough? Dig Liver Dis. 2008;40:101-3.
15. Crovella S, Brandão L, Guimarães R, Filho JL, Arraes LC, Ventura A, Not T. Speeding up coeliac disease diagnosis in developing countries. Dig Liver Dis. 2007;39:900-2.
16. Dube C, Rostom A, Sy R, Cranney A, Saloojee N, Garrity C, Sampson M, Zhang L, Yazdi F, Mamaladze V, Pan I, Macneil J, Mack D, Patel D, Moher D. The prevalence of celiac disease in average-risk and at-risk Western European populations: a systemic review. Gastroenterology. 2005;128:s57-67.
17. Farré C, Humbert P, Vilar P, Varea V, Aldeguer X, Carnicer J, Carballo M, Gassull MA. Serological markers and HLA-DQ2 haplotype among first-degree relatives of celiac patients. Catalonian Coeliac Disease Study Group. Dig Dis Sci. 1999;44:2344-9.
18. Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, Elitsur Y, Green PH, Guandalini S, Hill ID, Pietzak M, Ventura A, Thorpe M, Kryszak D, Fornaroli F, Wasserman SS, Murray JA, Horvath K. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med. 2003;163:286-92.
19. Gandolfi L, Pratesi R, Cordoba JC, Tauil PL, Gasparin M, Catassi C. Prevalence of celiac disease among blood donors in Brazil. Am J Gastroenterol. 2000;95:689-92.
20. Goldberg D, Kryszak D, Fasano A, Green PH. Screening for celiac disease in family members: is follow-up testing necessary? Dig Dis Sci. 2007;52:1082-6.
21. Greco L, Romino R, Coto I, Di Cosmo N, Percopo S, Maglio M, Paparo F, Gasperi V, Limongelli MG, Cotichini R, D'Agate C, Tinto N, Sacchetti L, Tosi R, Stazi MA. The first large population based twin study of coeliac disease. Gut 2002; 50:624-8.
22. Hadithi M, von Blomberg BM, Crusius JB, Bloemena E, Kostense PJ, Meijer JW, Mulder CJ, Stehouwer CD, Peña AS. Accuracy of serologic tests and HLA-DQ typing for diagnosing celiac disease. Ann Intern Med. 2007;147:294-302.
23. Hill ID, Dirks MH, Liptak GS, Colletti RB, Fasano A, Guandalini S, Hoffenberg EJ, Horvath K, Murray JA, Pivor M, Seidman EG; North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2005;40:1-19.
24. Högberg L, Fälth-Magnusson K, Grodzinsky E, Stenhammar L. Familial prevalence of coeliac disease: a twenty-year follow-up study. Scand J Gastroenterol. 2003;38:61-5.
25. Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, Ciclitira PJ, Sollid LM, Partanen J. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac disease. Hum Immunol. 2003;64:469-77.
26. Karinen H, Kärkkäinen P, Pihlajamäki J, Janatuinen E, Heikkinen M, Julkunen R, Kosma VM, Naukkarinen A, Laakso M. HLA genotyping is useful in the evaluation of the risk for coeliac disease in the 1st-degree relatives of patients with coeliac disease. Scand J Gastroenterol. 2006;41:1299-304.
27. Koskinen L, Romanos J, Kaukinen K, Mustalahti K, Korponay-Szabo I, Barisani D, Bardella MT, Ziberna F, Vatta S, Széles G, Pocsai Z, Karell K, Haimila K, Adány R, Not T, Ventura A, Mäki M, Partanen J, Wijmenga C, Saavalainen P. Cost-effective HLA typing with tagging SNPs predicts celiac disease risk haplotypes in the Finnish, Hungarian, and Italian populations. Immunogenetics. 2009;61:247-56.
28. Kotze LM, Utiyama SR, Nisihara RM, Zeni MP, de Sena MG, Amarante HMS. Antiendomysium antibodies in Brazilian patients with celiac disease and their first degree relatives. Arq Gastroenterol. 2001;38:94-103.
29. Marsh MN. Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity ("celiac sprue"). Gastroenterology. 1992;102:330-54.
30. Megiorni F, Mora B, Bonamico M, Barbato M, Nenna R, Maiella G, Lulli P, Mazzilli MC. HLA-DQ and risk gradient for celiac disease. Hum Immunol. 2009;70:55-9.
31. Melo SB, Fernandes MI, Peres LC, Troncon LE, Galvão LC. Prevalence and demographic characteristics of celiac disease among blood donors in Ribeirão Preto, State of São Paulo, Brazil. Dig Dis Sci. 2006;51:1020-5.
32. Monsuur AJ, de Bakker PI, Zhernakova A, Pinto D, Verduijn W, Romanos J, Auricchio R, Lopez A, van Heel DA, Crusius JB, Wijmenga C. Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. PLoS One. 2008;3:e2270.
33. Niveloni S, Pedreira S, Sugai E, Vasquez H, Smecuol E, Fiorini A, Cabanne A, Dezi R, Valero J, Kogan Z, Maurino E, Bai JC. The natural history of gluten sensitivity: report of two new celiac disease patients resulting from a long-term follow-up of non-atrophic, first- degree relatives. Am J Gastroenterol 2000;95:463-8.
34. Oliveira RP, Sdepanian VL, Barreto JA, Cortez AJ, Carvalho FO, Bordin JO, de Camargo Soares MA, da Silva Patrício FR, Kawakami E, de Morais MB, Fagundes-Neto U. High prevalence of celiac disease in Brazilian blood donor volunteers based on screening by IgA antitissue transglutaminase. Eur J Gastroenterol Hepatol. 2007;19:43-9.
35. Pereira MA, Ortiz-Agostinho CL, Nishitokukado I, Sato MN, Damião AO, Alencar ML, Abrantes-Lemos CP, Cançado EL, de Brito T, Ioshii SO, Valarini SB, Sipahi AM. Prevalence of celiac disease in an urban area of Brazil with predominantly European ancestry. World J Gastroenterol. 2006;12:6546-50.
36. Pittschieler K, Gentili L, Niederhofer H. Onset of coeliac disease: a prospective longitudinal study. Acta Paediatr. 2003;92:1149-52.
37. Polvi A, Arranz E, Fernadez-Arquero M, Collin P, Mäki M, Sanz A, Calvo C, Maluenda C, Westman P, de la Concha EG, Partanen J. HLA-DQ2-negative celiac disease in Finland and Spain. Hum Immunol. 1998;59:169-75.
38. Pratesi R, Gandolfi L, Garcia SG, Modelli IC, Lopes de Almeida P, Bocca AL, Catassi C. Prevalence of coeliac disease: unexplained age-related variation in the same population. Scand J Gastroenterol. 2003;38:747-50.
39. Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child. 1990;65:909-11.
40. Rubio-Tapia A, Van Dyke CT, Lahr BD, Zinsmeister AR, El-Youssef M, Moore SB, Bowman M, Burgart LJ, Melton LJ 3rd, Murray JA. Predictors of family risk for celiac disease: a population-based study. Clin Gastroenterol Hepatol. 2008;6:983-7.
41. Sacchetti L, Sarrantonio C, Pastore L, Carlino V, Calcagno G, Ferrajolo A, Salvatore F. Rapid identification of HLA DQA1*0501, DQB1*0201, and DRB1*04 alleles in celiac disease by PCR-based methodology. Clin Chem. 1997:43:2204-6.
42. Silva EM, Fernandes MI, Galvão LC, Sawamura R, Donadi EA. Human leucocyte antigen class II alleles in White Brazilian patients with celiac disease. J Pediatr Gastroenterol Nutr. 2000;31:391-4.
43. Sollid LM, Thorsby E. HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis. Gastroenterology. 1993;105:910-22.
44. Trevisol C, Brandt KG, Silva GA, Crovella S, Ventura. A high prevalence of unrecognized celiac disease in an unselected hospital population in North-Eastern Brazil (Recife-Pernambuco). J Pediatr Gastroenterol Nutr. 2004;39:214-5.
45. Unsworth DJ. ACP Broadsheet No 149: September 1996. Serological diagnosis of gluten sensitive enteropathy. J Clin Pathol. 1996;49:704-11.
46. Utiyama SRR, Nass FR, Kotze LM, Nisihara RM, Ambrosio AR, Messias-Reason IT. Serological screening of relatives of celiac disease patients: antiendomysium antibodies, anti-tissue transglutaminase or both? Arq Gastroenterol. 2007;44:156-61.
47. Volta U, Molinaro N, Fusconi M, Cassani F, Bianchi FB. IgA antiendomysial antibody test. A test. A step forward in celiac disease screening. Dig Dis Sci. 1991;36:752-6.
48. Wolters VM, Wijmenga C. Genetic background of celiac disease and its clinical implications. Am J Gastroenterol. 2008;103:190-95.