Literature DB >> 12643291

Genetic dissection between silent and clinically diagnosed symptomatic forms of coeliac disease in multiplex families.

K Mustalahti1, P Holopainen, K Karell, M Mäki, J Partanen.   

Abstract

BACKGROUND: Coeliac disease has a large variation in clinical outcome. In addition to the classical disease with malabsorption, many individuals have a silent form, in which subject symptoms are missing but autoantibodies and mucosa lesions are identical to the symptomatic disease. AIM: To investigate whether differences in HLA DR-DQ genes explain the variation in outcome.
MATERIALS AND METHODS: HLA DQ alleles were determined in 28 multiplex families with sibling pairs in which one had the symptomatic disease but the other had the silent form.
RESULTS: No differences in the distribution of HLA DR-DQ haplotypes could be observed. The clinically diagnosed coeliac disease seemed to have earlier onset than silent coeliac disease.
CONCLUSIONS: Results indicate that the major genetic susceptibility locus, HLA DQ, does not determine the exact clinical outcome of coeliac disease.

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Year:  2002        PMID: 12643291     DOI: 10.1016/s1590-8658(02)80253-5

Source DB:  PubMed          Journal:  Dig Liver Dis        ISSN: 1590-8658            Impact factor:   4.088


  2 in total

1.  HLA DQ gene dosage and risk and severity of celiac disease.

Authors:  Joseph A Murray; S Breanndan Moore; Carol T Van Dyke; Brian D Lahr; Ross A Dierkhising; Alan R Zinsmeister; L Joseph Melton; Cynthia M Kroning; Mounif El-Yousseff; Albert J Czaja
Journal:  Clin Gastroenterol Hepatol       Date:  2007-10-24       Impact factor: 11.382

2.  Carrier frequency of HLA-DQB1*02 allele in patients affected with celiac disease: A systematic review assessing the potential rationale of a targeted allelic genotyping as a first-line screening.

Authors:  Dimitri Poddighe; Chiara Rebuffi; Annalisa De Silvestri; Cristina Capittini
Journal:  World J Gastroenterol       Date:  2020-03-28       Impact factor: 5.742

  2 in total

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