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Celiac disease (CD) is a systemic disorder caused by the ingestion of gluten in people with a genetic predisposition. The expression of HLA-DQ (HLA II) haplotypes is considered a necessary risk factor for the development of CD. Thus, several studies confirmed that by using tag SNPs it is possible to accurately assess the risk haplotypes of CD in different populations, with a sensitivity and specificity of 0.95 and 0.99 respectively. The tag SNP method is fast and inexpensive, being suitable for genetic diagnosis. However, so far in our country there are no studies on the use of tag SNP to predict haplotypes associated with CD. Thus, the objective of this project is to evaluate the frequency tag SNP predictors of HLA-DQ haplotypes that are associated with Celiac Disease in Misiones’s population. For this, the presence of tag SNP will be determined by analysing peripheral blood DNA samples from celiac patients by means of qRT-PCR by using TaqMan probes. The results will not only contribute to our population’s knowledge, but also it will be possible for new diagnostic tools to be implemented in our region, which may have an impact on the patients’ quality of life (early diagnosis-early treatment), and reduce the public health spending earmarked for this disease.
Keywords: HLA-DQ, celiac disease, tag SNPs
Start date: 2021-05-26
Advisor: Dra. Carolina Uribe Cruz
Email: carolinaurib10@yahoo.com.ar
