Serologic and genetic markers of celiac disease: A sequential study in the screening of first degree relatives

Margherita Bonamico, Mirella Ferri, Paolo Mariani, Raffaella Nenna, Enina Thanasi, Rita P L Luparia, Antonio Picarelli, Fabio M. Magliocca, Barbara Mora, Maria Teresa Bardella, Antonella Verrienti, Benedetta Fiore, Stefania Uccini, Francesca Megiorni, Maria Cristina Mazzilli, Claudio Tiberti

Research output: Contribution to journalArticle

58 Citations (Scopus)

Abstract

Objectives: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. Methods: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA antitransglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. Results: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5%, the enlarged prevalence 10.9%. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. Conclusions: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up.

Original languageEnglish
Pages (from-to)150-154
Number of pages5
JournalJournal of Pediatric Gastroenterology and Nutrition
Volume42
Issue number2
DOIs
Publication statusPublished - Feb 2006

Fingerprint

celiac disease
Celiac Disease
Genetic Markers
screening
Radioimmunoprecipitation Assay
genetic markers
biopsy
Serology
Immunoglobulin A
Biopsy
autoantibodies
disease prevalence
assays
Autoantibodies
IgA Deficiency
immunoglobulin A
protein-glutamine gamma-glutamyltransferase
fathers
HLA Antigens
atrophy

Keywords

  • Celiac disease
  • HLA
  • Relatives
  • Serology

ASJC Scopus subject areas

  • Gastroenterology
  • Histology
  • Medicine (miscellaneous)
  • Food Science
  • Pediatrics, Perinatology, and Child Health

Cite this

Serologic and genetic markers of celiac disease : A sequential study in the screening of first degree relatives. / Bonamico, Margherita; Ferri, Mirella; Mariani, Paolo; Nenna, Raffaella; Thanasi, Enina; Luparia, Rita P L; Picarelli, Antonio; Magliocca, Fabio M.; Mora, Barbara; Bardella, Maria Teresa; Verrienti, Antonella; Fiore, Benedetta; Uccini, Stefania; Megiorni, Francesca; Mazzilli, Maria Cristina; Tiberti, Claudio.

In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 42, No. 2, 02.2006, p. 150-154.

Research output: Contribution to journalArticle

Bonamico, M, Ferri, M, Mariani, P, Nenna, R, Thanasi, E, Luparia, RPL, Picarelli, A, Magliocca, FM, Mora, B, Bardella, MT, Verrienti, A, Fiore, B, Uccini, S, Megiorni, F, Mazzilli, MC & Tiberti, C 2006, 'Serologic and genetic markers of celiac disease: A sequential study in the screening of first degree relatives', Journal of Pediatric Gastroenterology and Nutrition, vol. 42, no. 2, pp. 150-154. https://doi.org/10.1097/01.mpg.0000189337.08139.83
Bonamico, Margherita ; Ferri, Mirella ; Mariani, Paolo ; Nenna, Raffaella ; Thanasi, Enina ; Luparia, Rita P L ; Picarelli, Antonio ; Magliocca, Fabio M. ; Mora, Barbara ; Bardella, Maria Teresa ; Verrienti, Antonella ; Fiore, Benedetta ; Uccini, Stefania ; Megiorni, Francesca ; Mazzilli, Maria Cristina ; Tiberti, Claudio. / Serologic and genetic markers of celiac disease : A sequential study in the screening of first degree relatives. In: Journal of Pediatric Gastroenterology and Nutrition. 2006 ; Vol. 42, No. 2. pp. 150-154.
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abstract = "Objectives: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. Methods: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA antitransglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. Results: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5{\%}, the enlarged prevalence 10.9{\%}. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. Conclusions: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up.",
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T2 - A sequential study in the screening of first degree relatives

AU - Bonamico, Margherita

AU - Ferri, Mirella

AU - Mariani, Paolo

AU - Nenna, Raffaella

AU - Thanasi, Enina

AU - Luparia, Rita P L

AU - Picarelli, Antonio

AU - Magliocca, Fabio M.

AU - Mora, Barbara

AU - Bardella, Maria Teresa

AU - Verrienti, Antonella

AU - Fiore, Benedetta

AU - Uccini, Stefania

AU - Megiorni, Francesca

AU - Mazzilli, Maria Cristina

AU - Tiberti, Claudio

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N2 - Objectives: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. Methods: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA antitransglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. Results: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5%, the enlarged prevalence 10.9%. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. Conclusions: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up.

AB - Objectives: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. Methods: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA antitransglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. Results: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5%, the enlarged prevalence 10.9%. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. Conclusions: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up.

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