《理科》科学的に探究し問いつづける生徒の育成 : 深い学びを引き起こすアクティブ・ラーニングを通して

<p>(B1 inflammatory, B2 stricturing, B3 penetrating, B23 stricturing and penetrating).</p

Identification of Internal Penetrating or Stricturing Complications.

<p>Identification of Internal Penetrating or Stricturing Complications.</p

Demographic data.

<p>Demographic data.</p

Rolling phenotype, only patients with B23 phenotype within one year of diagnosis.

<p>(B1 inflammatory, B2 stricturing, B3 penetrating, B23 stricturing and penetrating).</p

Cumulative Montreal phenotype (B1 inflammatory, B2 stricturing, B3 penetrating).

<p>Cumulative Montreal phenotype (B1 inflammatory, B2 stricturing, B3 penetrating).</p

Rolling phenotype (B1 inflammatory, B2 stricturing, B3 penetrating, B23 stricturing and penetrating).

<p>Rolling phenotype (B1 inflammatory, B2 stricturing, B3 penetrating, B23 stricturing and penetrating).</p

Additional file 11: of Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

List of Ethics Approvals. (DOC 33 kb

Additional file 3: Figure S2. of Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

Principal Component analysis for CD and UC. We obtained the first ten principal components from a reference sample of 2466 self-reported Europeans downloaded from the POPRES collection using 608,435 SNPs. The inferred ancestry of the samples agreed well with country of origin of the samples and therefore we reason that sample quality control was sufficient. a. The projected PC for CD gChip samples recruited from Belgium, The Children’s Hospitcal of Phildelphia (USA), Germany, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK, USA), and WTCCC (UK). b. The projected PC for UC gChip samples from the Children’s Hospitcal of Phildelphia (USA), Germany, Norway, Sweden, and WTCCC (UK). c. The principal component coordinates for POPRES samples from countries similar to the IBD samples. (TIFF 3988 kb

Functional characterization of RNF186.

<p>(A) <i>RNF186</i> encodes a protein with RING domain and two transmembrane domains. E3 ubiquitin-protein ligase activity is intrinsic to the RING domain. This domain contains the disease-coding variant (A64T). (B) <i>RNF186</i> expression response to <i>S. flexneri</i> in young mice (see also <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003723#pgen.1003723.s011" target="_blank">Figure S11</a>). (C) Network building steps. Network is generated by mining multiple sources of interaction databases in Metacore that span human protein-protein, protein-DNA, Protein-RNA and protein-compounds interactions. (D) Transcriptional regulation model for <i>RNF186</i>. IL1-beta and TGF-beta 1 decrease <i>HNF4A</i> mRNA expression <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003723#pgen.1003723-Caja1" target="_blank">[39]</a>–<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003723#pgen.1003723-Wang1" target="_blank">[41]</a>. Knockdown of retinoid X receptor, alpha (<i>RXRA</i>) down-regulates <i>HNF4A</i> gene expression; RXRA interacts with <i>HNF4A</i> gene <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003723#pgen.1003723-Tomaru1" target="_blank">[24]</a>. <i>HNF4A</i> is a direct target gene of caudal type homeobox 2 (CDX2); CDX2 increases <i>HNF4A</i> mRNA expression in intestinal epithelial cells <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003723#pgen.1003723-Boyd2" target="_blank">[42]</a>, <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003723#pgen.1003723-McKinneyFreeman1" target="_blank">[43]</a>. HNF4A binds promoter region of <i>HNF1A</i> and up-regulates its expression. HNF1A interacts with <i>RNF186</i> and regulates its transcription.</p

Identification of rare variants associated with ulcerative colitis.

a<p>Positions from Human genome build 36.</p>b<p>Previously reported variant independently identified in the current study.</p>c<p>Minor allele frequencies estimates from combined case:control cohorts; actual allele frequencies can vary between cohorts.</p><p>UC, Ulcerative Colitis; HC, Healthy Controls; NA, data not available.</p