A bioinformatic approach to identify pathogenic variants for Stevens-Johnson syndrome

Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

increasing of catalase activity in dimethylbenz-alpha-anthracene [DMBA] induced rat treated by Hibiscus sabdariffa L extract

The objective of the present study was to characterize the activity and expression of catalase enzymes in Hibiscus sabdariffa L [rosella] extract treated rat induced by dimethylbenz-alpha-anthracene [DMBA] and to evaluate the relationship between the catalase activity and histopathological characteristics of liver organ. The 25 animals were divided randomly into 5 groups: the normal group, the negative control group, and treated groups, which treated by rosella extract with variation of dose of 10, 50 and 100mg/kgBW/day for 35 days. On day36 the animals were given with DMBA in dose of 75 mg/kgBW single dose. After one week, the animals were sacrificed and the catalase activity was measured from liver homogenate by the decomposition of H2O2 and followed directly by the decrease in absorbance at 240 nm. The expression of catalase gene was observed using RT-PCR. The results showed that treatment of rosella extract increases the activity of catalase, significantly [P<0.05]. The increasing of catalase activity was found in dose dependent manner. The catalase gene expression was also found to increase in rosella extract treated groups. The histopathological observation of liver organ was found normal. Rosella extract increase the catalase activity and expression of catalase antioxidant gene. It was concluded that rosella extract increase activity and gene expression of catalase in vivo