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HLA-DQ and risk gradient for celiac disease.
Hum Immunol. 2009 Jan; 70(1):55-9.HI

Abstract

Celiac disease (CD) is a rare example of multifactorial disorder in which a genetic test is of great clinical relevance, as the disease rarely develops in the absence of specific HLA alleles. We typed DR-DQ genes in 437 Italian children with celiac disease, 834 first-degree relatives, and 551 controls. Of patients, 91% carried DQ2 and/or DQ8 heterodimers, 6% only had beta2 chain, 2% was alpha5 positive, and four were DQ2/DQ8/beta2/alpha5 negative. Only the presence of alpha5 resulted negatively associated to disease (p = 2 x 10(-4)), whereas we confirmed the effect of the beta half of DQ2 dimer on CD predisposition (p = 4 x 10(-12)). Considering 1:100 disease prevalence, we obtained a risk gradient ranging from 1:7 for DQ2 and DQ8 individuals down to 1:2518 for subjects lacking all predisposing factors. The DQB1*02 and DQB1*0302 concurrence (p = 9 x 10(-4)), besides the DQB1*02/*02 homozygosity, had an additional role in disease genetic determination. The CD prevalence rose to 17.6% in sisters, 10.8% in brothers, and 3.4% in parents. In the three groups, the subjects carrying high-risk HLA molecules were 57%, 71%, and 58%; among them, 29%, 15%, and 6% respectively had CD. Those siblings and parents with no susceptible factors were not affected. These findings indicate the impact of the HLA test for CD in clinical practice.

Authors+Show Affiliations

Department of Experimental Medicine, Sapienza University of Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19027045

Citation

Megiorni, Francesca, et al. "HLA-DQ and Risk Gradient for Celiac Disease." Human Immunology, vol. 70, no. 1, 2009, pp. 55-9.
Megiorni F, Mora B, Bonamico M, et al. HLA-DQ and risk gradient for celiac disease. Hum Immunol. 2009;70(1):55-9.
Megiorni, F., Mora, B., Bonamico, M., Barbato, M., Nenna, R., Maiella, G., Lulli, P., & Mazzilli, M. C. (2009). HLA-DQ and risk gradient for celiac disease. Human Immunology, 70(1), 55-9. https://doi.org/10.1016/j.humimm.2008.10.018
Megiorni F, et al. HLA-DQ and Risk Gradient for Celiac Disease. Hum Immunol. 2009;70(1):55-9. PubMed PMID: 19027045.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - HLA-DQ and risk gradient for celiac disease. AU - Megiorni,Francesca, AU - Mora,Barbara, AU - Bonamico,Margherita, AU - Barbato,Maria, AU - Nenna,Raffaella, AU - Maiella,Giulia, AU - Lulli,Patrizia, AU - Mazzilli,Maria Cristina, Y1 - 2008/11/21/ PY - 2008/07/25/received PY - 2008/10/20/revised PY - 2008/10/28/accepted PY - 2008/11/26/pubmed PY - 2009/5/13/medline PY - 2008/11/26/entrez SP - 55 EP - 9 JF - Human immunology JO - Hum. Immunol. VL - 70 IS - 1 N2 - Celiac disease (CD) is a rare example of multifactorial disorder in which a genetic test is of great clinical relevance, as the disease rarely develops in the absence of specific HLA alleles. We typed DR-DQ genes in 437 Italian children with celiac disease, 834 first-degree relatives, and 551 controls. Of patients, 91% carried DQ2 and/or DQ8 heterodimers, 6% only had beta2 chain, 2% was alpha5 positive, and four were DQ2/DQ8/beta2/alpha5 negative. Only the presence of alpha5 resulted negatively associated to disease (p = 2 x 10(-4)), whereas we confirmed the effect of the beta half of DQ2 dimer on CD predisposition (p = 4 x 10(-12)). Considering 1:100 disease prevalence, we obtained a risk gradient ranging from 1:7 for DQ2 and DQ8 individuals down to 1:2518 for subjects lacking all predisposing factors. The DQB1*02 and DQB1*0302 concurrence (p = 9 x 10(-4)), besides the DQB1*02/*02 homozygosity, had an additional role in disease genetic determination. The CD prevalence rose to 17.6% in sisters, 10.8% in brothers, and 3.4% in parents. In the three groups, the subjects carrying high-risk HLA molecules were 57%, 71%, and 58%; among them, 29%, 15%, and 6% respectively had CD. Those siblings and parents with no susceptible factors were not affected. These findings indicate the impact of the HLA test for CD in clinical practice. SN - 0198-8859 UR - https://www.unboundmedicine.com/medline/citation/19027045/HLA_DQ_and_risk_gradient_for_celiac_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0198-8859(08)00522-3 DB - PRIME DP - Unbound Medicine ER -