Celiac disease is a chronic immune-mediated enteropathy triggered by exposure to dietary gluten in genetically predisposed individuals. Many genes involved in the pathogenesis have been identified and a crucial role is known to be played by the Human Leukocyte Antigen (HLA) system. The main determinants for genetic susceptibility are HLA-DQA1 and HLA-DQB1 genes encoding for HLA-DQ2 and HLA-DQ8 molecules, carried by almost all patients affected. However, since HLA-DQ2 and HLA-DQ8 heterodimers explain almost 40% of the disease heritability, HLA typing should not be applied in diagnosis, but exclusively to clarify uncertain diagnoses, considering its negative predictive value.
Genetic susceptibilty and celiac disease: what role do HLA haplotypes play? / Sciurti, Martina; Fornaroli, Fabiola; Gaiani, Federica; Bonaguri, Chiara; Leandro, Gioacchino; Di Mario, Francesco; De' Angelis, Gian Luigi. - In: ACTA BIO-MEDICA DE L'ATENEO PARMENSE. - ISSN 0392-4203. - 89:9-S(2018), p. 17-21. [10.23750/abm.v89i9-S.7953]
Genetic susceptibilty and celiac disease: what role do HLA haplotypes play?
Sciurti, Martina;Fornaroli, Fabiola;Gaiani, Federica;Di Mario, Francesco;De' Angelis, Gian Luigi
2018-01-01
Abstract
Celiac disease is a chronic immune-mediated enteropathy triggered by exposure to dietary gluten in genetically predisposed individuals. Many genes involved in the pathogenesis have been identified and a crucial role is known to be played by the Human Leukocyte Antigen (HLA) system. The main determinants for genetic susceptibility are HLA-DQA1 and HLA-DQB1 genes encoding for HLA-DQ2 and HLA-DQ8 molecules, carried by almost all patients affected. However, since HLA-DQ2 and HLA-DQ8 heterodimers explain almost 40% of the disease heritability, HLA typing should not be applied in diagnosis, but exclusively to clarify uncertain diagnoses, considering its negative predictive value.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
