Projects / Programmes source: ARIS

Gentski dejavniki tveganja in farmakogenomika kronično vnetne črevesne bolezni (Slovene)

Research activity

Code Science Field Subfield
3.01.00  Medical sciences  Microbiology and immunology   

Code Science Field
3.01  Medical and Health Sciences  Basic medicine 
Evaluation (rules)
source: COBISS
Researchers (12)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  33622  Darja Farasin    Technical associate  2010 
2.  10065  PhD Ivan Ferkolj  Metabolic and hormonal disorders  Researcher  2009 - 2012  133 
3.  28039  PhD Silvo Koder  Pharmacy  Researcher  2009 - 2012  43 
4.  02053  PhD Ivan Krajnc  Microbiology and immunology  Researcher  2009  615 
5.  02057  PhD Dušanka Mičetić-Turk  Human reproduction  Researcher  2009  1,119 
6.  30953  PhD Mitja Mitrovič  Microbiology and immunology  Junior researcher  2009 - 2012  57 
7.  33390  Petra Perin  Biochemistry and molecular biology  Researcher  2010 - 2012  31 
8.  16340  PhD Uroš Potočnik  Microbiology and immunology  Head  2009 - 2012  634 
9.  28417  PhD Katja Repnik  Microbiology and immunology  Junior researcher  2009 - 2012  132 
10.  18035  PhD Pavel Skok  Metabolic and hormonal disorders  Researcher  2009 - 2012  681 
11.  29750  PhD Janez Šimenc  Microbiology and immunology  Researcher  2009 - 2010  25 
12.  23192  MSc Darja Urlep Žužej  Medical sciences  Technical associate  2009 - 2010  188 
Organisations (3)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,953 
2.  0334  University Medical Centre Maribor  Maribor  5054150000  23,106 
3.  2334  University of Maribor, Faculty of Medicine  Maribor  5089638048  15,954 
Significance for science
Together with our partners in the international consortium "International Inflammatory Bowel Disease Genetics Consortium - IIBDGC" we performed so far one of the largest genome wide association studies (GWA), which enrolled 75,000 patients and helthy controls from 18 different populations from Europe, USA and Australia. We have found 163, so far the largest number of genetic loci (genes) associated at the genome wide requred significance with any complex disease , leading us to the development and application of bioinformatics tools for in silico functional analysis and identification of biological pathways involved in the pathogenesis of IBD . The most interesting result of this bioinformatics analysis is the finding that most of the genes and biological pathways involved in the pathogenesis IBD are identical with those cells are using in response to microbial infection. This bioinformatics tools could now also be used in other chronic inflammatory and other complex diseases. The results of our study will also enable and facilitate further functional studies looking for the triggers that activate signaling pathways that trigger cell autoimmune response in contact with the microbes of normal intestinal flora. Furthermore, our study showed that GWA studies can explain only about 20%. of the genetic risk factors. The results of CHIP and target resequncing of 56 genes using next generation sequencing technology has revealed a rare and likely causal variants in 8 genes, suggesting that rare variants can only explain a small assitional part of the missing heredity in complex diseases. Other approaches, such as analysis of interactions between genes and the environment are waranted in the future. A striking finding was that the majority, ie 82 per cent of DNA polymorphisms (SNPs) associated with disease in the non-coding regions of a gene, which is likely to be the model for the most of the GWAs in the complex diseases. Recent studies, including ours, are fostering a new belief that the non-coding part of the human genome is also very important in the functioning of cells, especially in the regulation of gene expression. In our study we were able to 48 percent of non-coding polymorphisms associated with disease, demonstrate a connection to the areas relating to the regulation of gene expression.
Significance for the country
Results of our project are relevant and important for the medical, social and economic development in Slovenia. By analyzing more than 200 000 SNPs in our post GWA study in a large number of Slovenian patients and healthy controls, we have contributed so far the most comprehensive description of the Slovenian genetic heritage and genetic diversity in Slovenian population. Descriptions of genetic diversity, such as location in the genome, the type and frequency of polymorphisms in the control population are directly applicable to a number of research groups in Slovenia, which carried out association studies in various complex diseases. Experience and knowledge of statistical and bioinformatics analysis of a vast number of genetic data obtained with microarrays for genotyping SNP can offer a support to Slovenian research teams, using association studies in the whole genome to identify genetic risk factors for complex diseases and other complex phenotypes in humans and other organisms. Patients could suffer for less adverse side effects if therapy is personalized based on molecular and genetic biomarkers we have discovered in this study for treatment of Crohn disease patients.
Most important scientific results Annual report 2009, 2010, 2011, final report, complete report on dLib.si
Most important socioeconomically and culturally relevant results Annual report 2009, 2010, 2011, final report, complete report on dLib.si
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