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Item Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility(Nature Publishing Group, 2015-04-23) Yin, Xianyong; Low, Hui Qi; Wang, Ling; Li, Yonghong; Ellinghaus, Eva; Han, Jiali; Estivill, Xavier; Sun, Liangdan; Zuo, Xianbo; Shen, Changbing; Zhu, Caihong; Zhang, Anping; Sanchez, Fabio; Padyukov, Leonid; Catanese, Joseph J.; Krueger, Gerald G.; Duffin, Kristina Callis; Mucha, Sören; Weichenthal, Michael; Weidinger, Stephan; Lieb, Wolfgang; Foo, Jia Nee; Li, Yi; Sim, Karseng; Liany, Herty; Irwan, Ishak; Teo, Yikying; Theng, Colin T. S.; Gupta, Rashmi; Bowcock, Anne; De Jager, Philip L.; Qureshi, Abrar A.; de Bakker, Paul I. W.; Seielstad, Mark; Liao, Wilson; Ståhle, Mona; Franke, Andre; Zhang, Xuejun; Liu, Jianjun; Department of Dermatology, IU School of MedicinePsoriasis is a common inflammatory skin disease with complex genetics and different degrees of prevalence across ethnic populations. Here we present the largest trans-ethnic genome-wide meta-analysis (GWMA) of psoriasis in 15,369 cases and 19,517 controls of Caucasian and Chinese ancestries. We identify four novel associations at LOC144817, COG6, RUNX1 and TP63, as well as three novel secondary associations within IFIH1 and IL12B. Fine-mapping analysis of MHC region demonstrates an important role for all three HLA class I genes and a complex and heterogeneous pattern of HLA associations between Caucasian and Chinese populations. Further, trans-ethnic comparison suggests population-specific effect or allelic heterogeneity for 11 loci. These population-specific effects contribute significantly to the ethnic diversity of psoriasis prevalence. This study not only provides novel biological insights into the involvement of immune and keratinocyte development mechanism, but also demonstrates a complex and heterogeneous genetic architecture of psoriasis susceptibility across ethnic populations.Item Integrative network analysis of rifampinregulated miRNAs and their functions in human hepatocytes(IOS, 2015) Li, Jin; Wang, Ying; Wang, Lei; Liang, Hong; Feng, Weixing; Meng, Xianglian; Cong, Wang; Liu, Yunlong; Department of Medical & Molecular Genetics, IU School of MedicineRifampin is an important drug used in the treatment of tuberculosis, and it increases the drug metabolism in human hepatocytes. Previous studies have shown that rifampin can indirectly influence drug deposition through the regulation of molecular interactions of miRNA, PXR and other genes. The potential functions of miRNAs associated with rifampin- induced drug disposition are poorly understood. In this study, significantly differentially expressed miRNAs (SDEM) were extracted and used to predict the miRNA-regulated co-expression target genes (MCeTG). Additionally, a miRNA-regulated co-expressed protein interaction network (MCePIN) was constructed for SDEM by extending from the protein interaction network (PIN). The functioning of the miRNAs were analyzed using GO analysis and KEGG pathway enrichment analysis. A total of 20 miRNAs belonging to SDEM were identified, and 632 miRNA-regulated genes were predicted. The MCePIN was constructed by extending from PIN, and 10 miRNAs and 33 genes that are relevant to 7 functions, including response to wounding, wound healing, response to drug, defense response, inflammatory response, liver development and drug metabolism, were discerned. The results provided by this study offer valuable insights into the effect of rifampin on miRNAs, genes and protein levels.Item Management of Two Cases of Supernumerary Teeth(IngentaConnect, 2020-01-01) Scully, Allison; Zhang, Hong; Kim-Berman, Hera; Benavides, Erika; Hardy, Nina C.; Hu, Jan C-C.; Pediatric Dentistry, School of DentistrySupernumerary teeth are commonly observed as an isolated developmental anomaly. While familial tendency of supernumerary teeth has been documented, its genetic causality has not yet been determined. This communication presents two cases with supernumerary teeth and the process leading to the diagnosis and determination of their underlying conditions. Cases were evaluated and family histories reviewed. Genetic counseling was recommended for the probands and followed by genetic testing of selected family members. Results The proband of family 1, who has multiple supernumerary teeth, was determined to have a RUNX2 missense mutation (c.379C>T, p.Pro127Ser) and diagnosed with cleidocranial dysplasia. The proband of family 2 who has a premolar region supernumerary tooth and was reported to have no bone defects also presented with a RUNX2 missense mutation (c.1381G>C, p.Gly461Arg). Conclusion When patients present with multiple supernumerary teeth, a recommendation and guidance to genetic counseling and testing may facilitate accurate diagnosis and management.