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2016, Number 14

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waxapa 2016; 8 (14)

Enfermedad Celíaca: epidemiología, fisiopatología, diagnóstico y genética

Meneses PA, Partida PM

Language: Spanish
References: 50
Page: 9-20
PDF size: 0. Kb.


ABSTRACT

Celiac disease (CD) is a multifactorial autoimmune disorder triggered by enteral gluten exposure, which causes intestinal malabsorption syndrome in affected patients. The criteria for diagnosis are well established, these are based on the symptoms, serology, histopathology and genetic characteristics of the disease. However, CD is an underdiagnosed disease with a global prevalence of approximately 1% with a high variability in prevalence between different countries.
In Mexico, few studies have focused on the exact prevalence but it is estimated to be between 0.72% - 2.7% in the general population.
CD has a higher prevalence associated with other autoimmune disorders such as Type 1 Diabetes Mellitus and Crohn’s disease, certain genes have been found to be involved in these autoimmune disorders. The disease mechanism is mainly immunological, there are individuals with increased susceptibility as they exhibit genetic variations of autoimmune response components.
Several gluten peptides stimulate an adaptive immune response, involving tissue transglutaminase deaminated amino acids thus facilitating antigen presentation, or an innate immune response involving immune cells such as NK. It is now known that celiac disease has a strong genetic component associated with the HLA/DQ2 and HLA/DQ8 alleles, however, the non-HLA genes involved in disease genesis have also been extensively studied.
To date, 39 non-HLA genes have been identified, most of these being related to immune dysregulation. More genetic components involved in disease genesis are being discovered, such as eQTLs (Expression quantitative trait loci) consisting in polymorphisms regulating nearby genes and non-coding RNAs that regulate gene expression.


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