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| 1 | Role of CARD15,DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases显示文摘AIM: To investigate the contribution of variants of CARD15, OCTN1/2 and DLG5 genes in disease predispo- sition and phenotypes in a large Italian cohort of pediatric patients with inflammatory bowel diseases (IBD). METHODS: Two hundred patients with Crohn’s disease (CD), 186 ulcerative colitis (UC) patients, 434 par- ents (217 trios), and 347 healthy controls (HC) were studied. Polymorphisms of the three major variants of CARD15, 1672C/T and -207G/C SNPs for OCTN genes, IGR2096a_1 and IGR2198a_1 SNPs for the IBD5 locus, and 113G/A variant of the DLG5 gene were evaluated. Potential correlations with clinical sub-phenotypes were investigated. RESULTS: Polymorphisms of CARD15 were significantly associated with CD, and at least one variant was found in 38% of patients (15% in HC, OR = 2.7, P < 0.001). Homozygosis for both OCTN1/2 variants was more com- mon in CD patients (1672TT 24%, -207CC 29%) than in HC (16% and 21%, respectively; P = 0.03), with an in- creased frequency of the TC haplotype (44.8% vs 38.3% in HC, P = 0.04). No association with the DLG5 variant was found. CD carriers of OCTN1/2 and DLG5 variants more frequently had penetrating disease (P = 0.04 and P = 0.01), while carriers of CARD15 more frequently had ileal localization (P = 0.03). No gene-gene interaction was found. In UC patients, the TC haplotype was morefrequent (45.4%, P = 0.03), but no genotype/phenotype correlation was observed. CONCLUSION: Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric on- set of CD. Polymorphisms of CARD15, OCTN, and DLG5 genes exert a weak influence on CD phenotype. | S Cucchiara A Latiano O Palmieri AM Staiano R D'Incà G Guariso G Vieni V Rutigliano O Borrelli MR Valvano V Annese | 2007 | World Journal of Gastroenterology2007，13，8： | 9 |
| 2 | Human urotensinⅡis a potent vasoconstrictory and agonist for the orphan receptor GPR14 显示文摘 | Ames R S Sarau H M Chambers J K | 1999 | Nature1999，401，6750： | 3 |
| 3 | Level of expression of E-cadherin mRNA in colorectal cancer correlated with clinical outcome显示文摘 | Dorudi S Hanby AM Poulsom R | 1995 | Br J Cancer1995，71，： | 1 |
| 4 | Cytokine and chemokine-based gene therapy for cancer 显示文摘 | Chada S Ramesh R Mhashilkar AM | 2003 | Curr Opin Mol Ther2003，5，5： | 1 |
| 5 | Calculated from ICSD using POWD- 12q-q-显示文摘 | R J Markgraf S A Am | 1986 | Mineral1986，71，795： | 1 |
| 6 | A cell-based high-throughput screening assay to measure cellular histone h3 lys27 trimethylation with a modified dissociation-enhanced lanthanide fluorescent immunoassay 显示文摘 | Xie W Ames R S Li H | 2012 | J Biomol Screen2012，17，1： | 1 |
| 7 | Cancer stem cells: A new paradigm for understanding tumor growth and progression and drug resistance 显示文摘 | Gangemi R Paleari L Orengo AM Cesario A Chessa L Ferrini S | 2009 | Curt Med Chem2009，16，14： | 1 |
| 8 | N-aeetylcysteine reduces the exacerbation rate in patients with moderate to severe COPD 显示文摘 | Pela R Calcagni AM Subiaco S | 1999 | Respiration1999，66，： | 1 |
| 9 | Adenovirus-mediated herpes simplex virus thymidine kinase gene therapy in BT4C rat glioma model 显示文摘 | Sandmair AM Turunen M Vanninen R Vainio P Kauppinen R Johansson R Vapalahti M Yla-Herttuala S | 2002 | Cancer Gene Ther2002，9，11： | 1 |
| 10 | Anticancer, antichemotactic and antimicrobial activities of marine sponges collected off the coast of Santa Catarina, southern Brazil显示文摘 | Noel R Monks Clea Lerner Amélia T Henriques Fabiane M Farias Elfrides E.S Schapoval Edna S Suyenaga Adriana B da Rocha Gilberto Schwartsmann Beatriz Mothes | 2002 | Journal of Experimental Marine Biology and Ecology2002，，1： | 1 |
| 11 | Expression of oestrogen receptor and oestrogen-inducible genes pS2 and ERD5 in large bowel mucosa and cancer显示文摘 | Singh S Poulsom R Hanby AM | 1998 | J Pathol1998，184，： | 1 |
| 12 | Carbon pools and flux of global forest ecosystems显示文摘 | Dixon R K Brown S Houghton R A Solomon AM’ Trexler MC Wisniewski J | 1994 | Science1994，263，5144： | 1 |
| 13 | Human urotensin-Ⅱ is a potent vasoconstrictor and agonist for the orphan receptor GPR14显示文摘 | Ames R S Sarau H M Chambers J K | 1999 | Nature1999，401，： | 1 |
| 14 | Acute promyelocytic leukemia:morphological and clinical features显示文摘 | Invernizzi R Iannone AM Bernuzzi S | 1993 | Haematologica1993，78，3： | 1 |
| 15 | A multi-stage decisiowmaking process for multi pie attributes analysis under an internal-valued fuzzy environ- ment显示文摘 | MOUSAVI S M VAHDANI B TAVAKKOL1 MOGHADD- AM R eta | 2012 | International Journal of Advanced Manufacturing Teehnology2012，64，912： | 1 |
| 16 | Protein kinase A- mediated phosphorylation of the RASSF1A tumour suppressor at Serine 203 and regulation of RASSF1A function显示文摘 | Richter AM Undraga S Matthias R et aI | 2010 | Europe- an Journal of Cancer2010，46，： | 1 |
| 17 | Distinguishing between perceived behavioral control and self - efficacy in the domain of academic achievement intentions and behaviors 显示文摘 | Manstead A S R van Eekelen S AM | 1998 | Journal of Applied Social Psychology1998，，28： | 1 |
| 18 | Arabidopsis cuticular waxes: Advances in synthesis, export and regulation显示文摘 | Amélie Bernard Jér?me Joubès | 2013 | Progress in Lipid Research2013，，1： | 1 |
| 19 | Opioid complications and side effects显示文摘 | Benyamin R Trescot AM Datta S | 2008 | Pain physician2008，11，2： | 1 |
| 20 | N-acetylcysteine reduces the exacerbation rate in patients with moderate to severe COPD显示文摘 | Pela R Calcagni AM Subiaco S | 1999 | Respiration1999，66，： | 1 |
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