PMID: 9523863Apr 2, 1998Paper

Lack of correlation between genotype and phenotype in celiac disease

Journal of Pediatric Gastroenterology and Nutrition
L GrecoF Clerget-Darpoux

Abstract

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. 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. 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. There is no evidence that clinical features of celiac disea...Continue Reading

References

May 1, 1988·Acta paediatrica Scandinavica·M MäkiJ K Visakorpi
Jun 1, 1984·Journal of Pediatric Gastroenterology and Nutrition·M L MearinA S Peña
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Citations

May 4, 2004·Human Immunology·M Concepción VidalesMiguel A Alfonso-Sánchez
Oct 12, 2004·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Timothy C JohnsonPeter H R Green
Mar 20, 2003·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·K MustalahtiJ Partanen
Jul 16, 2011·PloS One·Maria Pia SperandeoLuigi Greco
Sep 15, 2001·Tissue Antigens·B TüysüzG Tümay
Feb 27, 2007·Current Problems in Pediatric and Adolescent Health Care·M Luisa Mearin
Mar 11, 2006·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Abdulbaqi Al-TomaChris J J Mulder
Jul 19, 2002·American Journal of Medical Genetics·Susan L NeuhausenJohn J Zone
Dec 23, 2008·The American Journal of Gastroenterology·Andrea CassinottiGabriele Bianchi Porro
Jun 23, 2009·Journal of Pediatric Gastroenterology and Nutrition·Audur H GudjónsdóttirHenry Ascher
May 29, 2009·European Journal of Gastroenterology & Hepatology·Lilia LaadharMongi Ben Hariz
Feb 18, 2006·Scandinavian Journal of Gastroenterology·Hannele KarinenMarkku Laakso
Jul 14, 2009·Scandinavian Journal of Gastroenterology·Harry J ThomasDerek P Jewell
Aug 30, 2008·Journal of Pediatric Gastroenterology and Nutrition·Raffaella NennaMargherita Bonamico
Oct 22, 2008·Scandinavian Journal of Gastroenterology·Beatrijs A N VermeulenM Luisa Mearin
Dec 28, 2006·Scandinavian Journal of Gastroenterology·Rita-Désirée JoresMauro Congia
Jun 7, 2002·Journal of Pediatric Gastroenterology and Nutrition·Paul ZubillagaJuan Carlos Vitoria
May 7, 2021·Italian Journal of Pediatrics·Carlo ToloneCaterina Strisciuglio

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