Celiac disease genetics: current concepts and practical applications.
ABSTRACT Celiac disease is a multifactorial disease with complex genetics. Both HLA and non-HLA genes contribute to the genetic component, but recent findings suggest that the importance of non-HLA genes might have been overestimated. No susceptibility genes other than HLA-DQ have yet been identified in celiac disease. In contrast to the meager knowledge regarding non-HLA genes, we have acquired a detailed understanding about which HLA genes are predisposing for disease, and how they are involved in the pathogenesis. This knowledge might pave the road for novel treatments for the disease. The role of HLA as a necessary, but not sufficient, genetic factor can moreover be used for diagnostic purposes to exclude a celiac disease diagnosis. The applicability of HLA genotyping is particularly useful for excluding celiac disease in family members or risk groups with fairly unbiased distribution of HLA alleles (ie, patients with Turner syndrome and patients with Down syndrome) and in patients with a clinical suspicion of celiac disease.
- SourceAvailable from: Ying-Yong Zhao[Show abstract] [Hide abstract]
ABSTRACT: 1. Overview of Biomarkers for Diagnosis and Monitoring of Celiac Disease 2. Cystatin C: A Kidney Function Biomarker 3. Procalcitonin: Potential Role in Diagnosis and Management 4. Manganese Superoxide Dismutase and Oxidative Stress Modulation 5. Selenium and Selenium-Dependent Antioxidants in Chronic Kidney Disease 6. Lipidomics:New Insight Into Kidney DiseaseAdvances in clinical chemistry 02/2015; 68. · 4.30 Impact Factor
- [Show abstract] [Hide abstract]
ABSTRACT: A multidisciplinary panel of 18 physicians and 3 non-physicians from eight countries (Sweden, UK, Argentina, Australia, Italy, Finland, Norway and the USA) reviewed the literature on diagnosis and management of adult coeliac disease (CD). This paper presents the recommendations of the British Society of Gastroenterology. Areas of controversies were explored through phone meetings and web surveys. Nine working groups examined the following areas of CD diagnosis and management: classification of CD; genetics and immunology; diagnostics; serology and endoscopy; follow-up; gluten-free diet; refractory CD and malignancies; quality of life; novel treatments; patient support; and screening for CD.Gut 06/2014; · 13.32 Impact Factor
- HLA and Associated Important Diseases, Edited by Yongzhi Xi, 03/2014: pages 223-245; InTech., ISBN: 978-953-51-1230-3