Title |
HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing
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Published in |
Journal of Biomedical Science, October 2012
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DOI | 10.1186/1423-0127-19-88 |
Pubmed ID | |
Authors |
Francesca Megiorni, Antonio Pizzuti |
Abstract |
Celiac disease (CD) is a multifactorial disorder with an estimated prevalence in Europe and USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte Antigen (HLA)-DQA1 and HLA-DQB1 loci, are well known. About 90-95% of CD patients carry DQ2.5 heterodimers, encoded by DQA1*05 and DQB1*02 alleles both in cis or in trans configuration, and DQ8 molecules, encoded by DQB1*03:02 generally in combination with DQA1*03 variant. Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1≠*05 and DQB1*02) and very rarely in patients negative for these DQ predisposing markers. HLA molecular typing for Celiac disease is, therefore, a genetic test with a negative predictive value. Nevertheless, it is an important tool able to discriminate individuals genetically susceptible to CD, especially in at-risk groups such as first-degree relatives (parents, siblings and offspring) of patients and in presence of autoimmune conditions (type 1 diabetes, thyroiditis, multiple sclerosis) or specific genetic disorders (Down, Turner or Williams syndromes). |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Hong Kong | 1 | 20% |
Ireland | 1 | 20% |
Canada | 1 | 20% |
United Kingdom | 1 | 20% |
Unknown | 1 | 20% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 80% |
Practitioners (doctors, other healthcare professionals) | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Brazil | 3 | <1% |
Portugal | 1 | <1% |
Germany | 1 | <1% |
Sweden | 1 | <1% |
Russia | 1 | <1% |
Spain | 1 | <1% |
United States | 1 | <1% |
Unknown | 334 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 64 | 19% |
Student > Master | 48 | 14% |
Student > Ph. D. Student | 40 | 12% |
Researcher | 34 | 10% |
Student > Doctoral Student | 25 | 7% |
Other | 59 | 17% |
Unknown | 73 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 88 | 26% |
Agricultural and Biological Sciences | 63 | 18% |
Biochemistry, Genetics and Molecular Biology | 46 | 13% |
Immunology and Microbiology | 21 | 6% |
Nursing and Health Professions | 12 | 3% |
Other | 33 | 10% |
Unknown | 80 | 23% |