Literature DB >> 9523863

Lack of correlation between genotype and phenotype in celiac disease.

L Greco1, S Percopo, F Clot, F Bouguerra, M C Babron, J F Eliaou, C Franzese, R Troncone, F Clerget-Darpoux.   

Abstract

BACKGROUND: Celiac disease has a wide range of clinical features. The goal of this study was to evaluate whether specific HLA genotypes are associated with particular clinical appearances.
METHODS: One hundred forty-five patients with confirmed celiac disease were oligotyped for DR and DQ HLA genes. Clinical notes, physical examination, and a questionnaire provided their personal data. Patients were grouped into nine genotypic categories, according to the presence of the specific DQ heterodimer DQA1*0501-DQB1*0201 (hence termed alpha0beta0), in single or double dose, and the presence of the DRB4 antigen.
RESULTS: Age at first symptoms and age at beginning of gluten-free diet were not significantly different in the nine groups. The initial symptoms of the disease had a similar distribution in all groups. In twenty-seven patients, disease was diagnosed by family screening: they shared a similar HLA genotype with those who had relevant symptoms. The actual growth status-evaluated by standardized height, percentage of median weight for age, and percentage of median weight for height--was not different in the nine groups. Presence of unusual health complaints was not associated with a specific genotype.
CONCLUSIONS: There is no evidence that clinical features of celiac disease are associated with different HLA genotypes. Genes outside the HLA may play a relevant role.

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Year:  1998        PMID: 9523863     DOI: 10.1097/00005176-199803000-00009

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN: 0277-2116            Impact factor:   2.839


  5 in total

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2.  MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.

Authors:  A Lopez-Vazquez; L Rodrigo; D Fuentes; S Riestra; C Bousoño; S Garcia-Fernandez; J Martinez-Borra; S Gonzalez; C Lopez-Larrea
Journal:  Gut       Date:  2002-03       Impact factor: 23.059

3.  Celiac disease in pediatric patients according to HLA genetic risk classes: a retrospective observational study.

Authors:  Carlo Tolone; Marisa Piccirillo; Pasquale Dolce; Salvatore Alfiero; Mattia Arenella; Marina Sarnataro; Patrizia Iardino; Alessia Pucciarelli; Caterina Strisciuglio
Journal:  Ital J Pediatr       Date:  2021-05-05       Impact factor: 2.638

4.  Potential celiac patients: a model of celiac disease pathogenesis.

Authors:  Maria Pia Sperandeo; Antonella Tosco; Valentina Izzo; Francesca Tucci; Riccardo Troncone; Renata Auricchio; Jihane Romanos; Gosia Trynka; Salvatore Auricchio; Bana Jabri; Luigi Greco
Journal:  PLoS One       Date:  2011-07-08       Impact factor: 3.240

5.  Classical celiac disease is more frequent with a double dose of HLA-DQB1*02: A systematic review with meta-analysis.

Authors:  Judit Bajor; Zsolt Szakács; Nelli Farkas; Péter Hegyi; Anita Illés; Margit Solymár; Erika Pétervári; Márta Balaskó; Gabriella Pár; Patrícia Sarlós; Ákos Szűcs; József Czimmer; Kata Szemes; Orsolya Huszár; Péter Varjú; Áron Vincze
Journal:  PLoS One       Date:  2019-02-14       Impact factor: 3.240

  5 in total

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