HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease

@article{Jores2007HLADQB10201HP,
  title={HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease},
  author={Rita D{\'e}sir{\'e}e Jores and Fulvia Frau and Francesco Cucca and Maria Grazia Clemente and Sandra Orr{\`u} and Marco Rais and Stefano De Virgiliis and Mauro Congia},
  journal={Scandinavian Journal of Gastroenterology},
  year={2007},
  volume={42},
  pages={48 - 53}
}
Objective. Celiac disease (CD) is a T-lymphocyte-mediated small intestinal enteropathy triggered and maintained by dietary gluten, with a strong genetic component mapping to the HLA genes encoding for the class II DQ(α1*0501, β1*02) molecule. Damage of the small intestine may cause a variety of clinical signs ranging from isolated long-standing iron-deficiency anemia refractory to iron supplementation to forms of severe malnutrition that may become life threatening. However, patients carrying… Expand
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There is no evidence that clinical features of celiac disease are associated with different HLA genotypes, and genes outside the HLA may play a relevant role. Expand
Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease
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A gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet is demonstrated. Expand
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A dosage effect of DQB1*0201 may be associated with an increased risk of celiac disease and before starting a gluten-free diet, serologic screening and biopsy confirmation are necessary. Expand
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The genetic markers investigated may prove useful for diagnosing and managing celiac disease and have a moderate strength and must be confirmed by other studies. Expand
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The distribution of DQ genes in the Saharawi population only provides a partial explanation for the high prevalence of CD, and other factors, such as rapidly changing dietary habits and/or non-DQ genes, may also play some role. Expand
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TLDR
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The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses
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TLDR
Evidence is provided that the disease-associated HLA-DQ2.5 molecule presents a large repertoire of gluten peptides, whereas the non-disease- associated HLA.2.2 molecule can present only a subset ofThese results correlated with peptide binding to the antigen-presenting cells. Expand
A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease.
TLDR
It is suggested that a double dose of DQA1*0501, DQB1*0201 genes may predispose a person to an earlier onset and to more severe disease manifestations. Expand
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