0000000000360108
AUTHOR
Cottone M
Marked impact of IL28B genotype in the natural clearance of hepatitis C virus in patients with haemoglobinopathies.
Factor V Leiden and prothrombin gene mutation in inflammatory bowel disease in a Mediterranean area.
Abstract Background. Thromboembolism has been reported to be associated with inflammatory bowel disease. Aim. To evaluate the association of factor V Leiden and prothrombin gene mutation with inflammatory bowel disease in a population of patients with thromboembolic events and inflammatory bowel disease and in a control population of patients with inflammatory bowel disease without thromboembolic events. Patients and methods. A series of 18 patients with inflammatory bowel disease and a history of arterial or venous thrombosis and 45 patients with inflammatory bowel disease without thromboembolic events were evaluated for the presence of factor V Leiden and prothrombin gene mutation. Freque…
Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease Study.
Abstract Background. Three variants of the NOD 2 /CARD 15 gene are strongly associated with susceptibility to Crohn’s disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn’s disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn’s disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of thr…
The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility
Abstract:We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects and 68,284 control subjects and establish a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 independent associations within the extended MHC. We used an ensemble of methods to prioritize up to 551 potentially associated MS susceptibility genes, that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we do find enrichment for MS genes in these brain -…
Burden of Crohn's disease: economics and quality of life aspects in Italy.
BACKGROUND: This was a prospective observational study designed to evaluate direct and indirect costs and quality of life for patients with Crohn's disease in Italy from the perspectives of the National Health System and of society. METHODS: A total of 162 male and female subjects aged 18-70 years with Crohn's disease in the active phase and a Crohn's Disease Activity Index score ≥150 were included in the study. Subjects were recruited from 25 Italian centers on a consecutive basis. The study consisted of four visits undertaken every 6 months with a follow-up period of 18 months. The study started on September 1, 2006 and was completed on April 12, 2010. Multivariate analyses were carried o…