Autophagy related 16 like 1 gene (ATG16L1) Thr300Ala genetic variant confer an increased risk for the development of Crohn’s disease. According to Montreal disease classification, this study aims to determine the clinical significance of ATG16L1 T300A genetic variant among those patients. This case control study involved 35 CD, 40 UC and 35 HC. After extraction of DNA from blood samples, ATG16L1 T300A genotyping were done by SSP-PCR. Immunohistological techniques done for localization of ATG16L1, LC3C, Lysozyme, IL-17A, Norovirus and H. pylori in tissue samples of all subjects. In this study, we observed an association of ATG16L1 Thr300Ala genetic variants with CD (55.71%) conferring higher risk for the disease development (OR=2.76, 95% CI= 1.3-5.1), rather than UC, the genetic variation was 31.25% showed no association with disease development (OR=0. 93, 95% CI= 0.4-1.8) when compared with HC 32.8%. Clinically, patients with CD risk allele had non-specific clinical phenotype, but they tend to have an extra-intestinal manifestations (75%) and the need for surgical intervention (76.4%). This study concluded that ATG16L1 T300A genetic variant (CD risk allele) is a risk factor for CD development rather than UC.
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12/12/2014
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