Special Issue "Genetics of Celiac Disease"
A special issue of Medical Sciences (ISSN 2076-3271).
Deadline for manuscript submissions: closed (30 September 2016).
Interests: epigenetics; targeted therapy; regenerative medicine; molecular and cellular biology; network medicine; genetics
Special Issues and Collections in MDPI journals
Celiac Disease (CD) is a complex autoimmune disorder that is triggered by gluten ingestion in genetically predisposed individuals. CD is one of the commonest diseases with a prevalence of 1:100 in the general population and a female:male ratio of approximately 2:1. CD has a multifactorial etiology with a very strong genetic component, in which the Human Leukocyte Antigen (HLA)-DQ is the best characterized region associated to CD susceptibility. About 90–95% of CD patients carry HLA-DQ2 and/or DQ8 heterodimers, encoded by particular HLA-DQA1 and HLA-DQB1 alleles, and very rarely CD occurs in individuals negative for these DQ predisposing markers. In the last years, an increasing number of studies has also established that numerous non-HLA genes, especially involved in innate/adaptive immune response or intestinal permeability, are related to CD predisposition, each with a modest but additive contribution to the disease development. The purpose of this special issue is to provide a summary of data describing the utility of HLA molecular typing and its high negative predictive value in the CD diagnostic testing algorithm (screening of CD first-degree relatives, discrepancy of serological/histological results, comorbidity of autoimmune or chromosomal disorders). This Special Issue also shows the impact of non-HLA variants in CD susceptibility indicating that the combination of HLA and non-HLA genetic tests may improve the accuracy of CD risk prediction.
Dr. Francesca Megiorni
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- Celiac Disease
- HLA molecular typing
- CD risk
- non-HLA CD predisposing variants
- genetic test