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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 | Effect of impact load on articular cartilage: developoment of an intra-articular fracture model显示文摘 | Torzilli PA Grigiene R | 1997 | J Orthop Trauma1997，11，： | 1 |
| 3 | CXCR4 expression correlates with the degree of tumor infiltration and BRAF status in papillary thyroid carcinomas显示文摘 | Torregrossa L Giann{ni R Borrelli N | 2012 | Mod Patho2012，25，1： | 1 |
| 4 | Characterization of coloured compound sobtained by enzymatic extraction of bakery products 显示文摘 | BORRELLI R C MENNELLA C BARBA F | 2003 | Food and Chemical Toxicology2003，41，10： | 1 |
| 5 | Prognostic role of ambulatory blood pressure measurement in patients with nondialysischronic kidney disease 显示文摘 | Minutolo R Agarwal R Borrelli S | 2011 | Arch Intern Med2011，171，12： | 1 |
| 6 | Bread crust melanoidins aspotential prebiotic ingredients 显示文摘 | Borrelli R C* Fogliano V | 2005 | Molecular Nutritionand Food Research2005，49，： | 1 |
| 7 | Indirect reduction and percutaneous screw fixation of displaced tibial plateau fractures 显示文摘 | Koval KJ Sanders R Borrelli J | 1992 | J Orthop Trauma1992，6，3： | 1 |
| 8 | Effect of impact load on articular cartilage: development of an intra - articular fracture model 显示文摘 | Borrelli J Jr Torzilli PA Grigione R | 1997 | J Orthop Trauma1997，11，5： | 1 |
| 9 | Iodinated indole alkaloids from plakortis simplex - new plakohypa- phorines and an evaluation of their antihistamine activity 显示文摘 | Borrelli F Campagnuolo C Capasso R | 2004 | EurJOrg Chem2004，15，： | 1 |
| 10 | Prognostic role of ambulatory blood pressure measurement in patients with nondialysis chronic kidney disease显示文摘 | Minutolo R Agarwal R Borrelli S | 2011 | Arch Intern Med2011，171，12： | 1 |
| 11 | Effects of soy isoflavones on menopausal neurovegetative symptoms显示文摘 | Zarcone R Borrelli A | 2004 | Minerva Ginecol2004，56，： | 1 |
| 12 | Study of the solubility of iron in zirconium by thermoelectric power measurements显示文摘 | BORRELLY R MERLE P ADAMI L | 1990 | J Nuel Mater1990，170，： | 1 |
| 13 | Stabilization of acetabular fractures in elderly patients显示文摘 | H elfet DL Borrelli J J r DiPasquale T | 1992 | J Bone Joint Surg Am1992，74，： | 1 |
| 14 | Characterization of coloured compounds obtained by enzymatic extraction of backery products显示文摘 | R C Borrelli C Mennella F Barba | 2003 | Food Chemical Toxicology2003，41，： | 1 |
| 15 | Chemical characterization and antioxidant properties of coffee melanoidins显示文摘 | BORRELLI R C VISCONTI A MENNELLA C | 2002 | Journal of Agricultural and Food Chemistry2002，50，22： | 1 |
| 16 | Bread crust melanoldins as potential prebiotic ingredients显示文摘 | BORRELLI R C FOGLIANO V | 2005 | Molecular Nutrition&Food Research2005，49，7： | 1 |
| 17 | Water impact tests and simulations of a steel structure 显示文摘 | Borrelli R Mercurio U Alguadich S | 2012 | International Journal of Structural Integrity2012，3，1： | 1 |
| 18 | Characterization of melanoidins from a glucose-glycine model system显示文摘 | BORRELLI R FOGLIANO V Monti S M | 2002 | European Food Research and Technology2002，215，3： | 1 |
| 19 | Gastric electrical dysrhythmias and delayed gastric emptying in gastroesophageal reflux disease 显示文摘 | Salvia G Borrelli O Ciccimarra E Az-Zeqeh N Rapagiolo S Minella R Campanozzi A Rizzo G | 1997 | Am J Gastroenterol1997，92，7： | 1 |
| 20 | Short- and long- term therapeutic efficacy of nutritional therapy and corticosteroids in paediattic Crohn' s disease 显示文摘 | Berni- Canani R Terrin G Borrelli O | 2006 | Dig Liver Dis2006，38，6： | 1 |
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