HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíaca
Objective: celiac disease (CD) is an immune-mediated chronic inflammatory disease associated with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic algorithm in order to contribute to the development of practical indications for the use of HLA typing. Material and methods:...
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| Format: | Article |
| Language: | English |
| Published: |
Aran Ediciones
2012-05-01
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| Series: | Revista Espanola de Enfermedades Digestivas |
| Subjects: | |
| Online Access: | http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082012000500005 |
| _version_ | 1828201292732825600 |
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| author | Barbara Piccini Marina Vascotto Lucia Serracca Alice Luddi Maria Antonietta Margollicci Paolo Balestri Carla Vindigni Gabrio Bassotti Vincenzo Villanacci |
| author_facet | Barbara Piccini Marina Vascotto Lucia Serracca Alice Luddi Maria Antonietta Margollicci Paolo Balestri Carla Vindigni Gabrio Bassotti Vincenzo Villanacci |
| author_sort | Barbara Piccini |
| collection | DOAJ |
| description | Objective: celiac disease (CD) is an immune-mediated chronic inflammatory disease associated with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic algorithm in order to contribute to the development of practical indications for the use of HLA typing. Material and methods: we selected 317 subjects typed for DR-DQ genes. CD was present in 123 patients, and 89 were included in the study; a control sample of 70 healthy individuals was recruited. Results: 64% of patients with CD carried DQ2 heterodimer (α5β2), 13.5% carried DQ8 heterodimer without DQ2, 21.4% only showed β2 chain and 1.1% were positive for DQ2 α5 chain. The only presence of α5 chain did not predispose to CD, while DQB1*02 allele resulted more frequent than in other reports, pointing out the intrinsic correlation between β2 chain and CD. In the case-control study we observed a progression of increased risk, ranging from 1:7 for HLA-DQ2 homozygous to 1:85 for DQ8 heterozygous subjects. Overall, 8,6% of first degree family members were affected, exclusively in presence of HLA-DQ2, -DQ8 or DQB1*02, and CD was significantly more frequent among siblings than parents. Finally, considering the different patterns of clinical presentation among the HLA-DQ risk classes identified we found no relationship between CD clinical presentation and HLA-DQ risk categories. Conclusions: our results strengthen the evidence that HLA-DQ status strongly influences the development of CD and demonstrate that knowledge of a patient's HLA-DQ genotype allows to establish clinically relevant genetic risk profiles. |
| first_indexed | 2024-04-12T11:28:40Z |
| format | Article |
| id | doaj.art-68606ad758234b18ab4d41b446f7b0b2 |
| institution | Directory Open Access Journal |
| issn | 1130-0108 |
| language | English |
| last_indexed | 2024-04-12T11:28:40Z |
| publishDate | 2012-05-01 |
| publisher | Aran Ediciones |
| record_format | Article |
| series | Revista Espanola de Enfermedades Digestivas |
| spelling | doaj.art-68606ad758234b18ab4d41b446f7b0b22022-12-22T03:35:08ZengAran EdicionesRevista Espanola de Enfermedades Digestivas1130-01082012-05-011045248254HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíacaBarbara PicciniMarina VascottoLucia SerraccaAlice LuddiMaria Antonietta MargollicciPaolo BalestriCarla VindigniGabrio BassottiVincenzo VillanacciObjective: celiac disease (CD) is an immune-mediated chronic inflammatory disease associated with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic algorithm in order to contribute to the development of practical indications for the use of HLA typing. Material and methods: we selected 317 subjects typed for DR-DQ genes. CD was present in 123 patients, and 89 were included in the study; a control sample of 70 healthy individuals was recruited. Results: 64% of patients with CD carried DQ2 heterodimer (α5β2), 13.5% carried DQ8 heterodimer without DQ2, 21.4% only showed β2 chain and 1.1% were positive for DQ2 α5 chain. The only presence of α5 chain did not predispose to CD, while DQB1*02 allele resulted more frequent than in other reports, pointing out the intrinsic correlation between β2 chain and CD. In the case-control study we observed a progression of increased risk, ranging from 1:7 for HLA-DQ2 homozygous to 1:85 for DQ8 heterozygous subjects. Overall, 8,6% of first degree family members were affected, exclusively in presence of HLA-DQ2, -DQ8 or DQB1*02, and CD was significantly more frequent among siblings than parents. Finally, considering the different patterns of clinical presentation among the HLA-DQ risk classes identified we found no relationship between CD clinical presentation and HLA-DQ risk categories. Conclusions: our results strengthen the evidence that HLA-DQ status strongly influences the development of CD and demonstrate that knowledge of a patient's HLA-DQ genotype allows to establish clinically relevant genetic risk profiles.http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082012000500005Celiac diseaseMHC class IIHLA heterodimerRelative riskChildren |
| spellingShingle | Barbara Piccini Marina Vascotto Lucia Serracca Alice Luddi Maria Antonietta Margollicci Paolo Balestri Carla Vindigni Gabrio Bassotti Vincenzo Villanacci HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíaca Revista Espanola de Enfermedades Digestivas Celiac disease MHC class II HLA heterodimer Relative risk Children |
| title | HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíaca |
| title_full | HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíaca |
| title_fullStr | HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíaca |
| title_full_unstemmed | HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíaca |
| title_short | HLA-DQ typing in the diagnostic algorithm of celiac disease Tipificación HLA-DQ en el algoritmo diagnóstico de la enfermedad celíaca |
| title_sort | hla dq typing in the diagnostic algorithm of celiac disease tipificacion hla dq en el algoritmo diagnostico de la enfermedad celiaca |
| topic | Celiac disease MHC class II HLA heterodimer Relative risk Children |
| url | http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082012000500005 |
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