Published in No1. Ranked journal in the field of genetics! First Genome wide association study in Slovenian population performed by Slovenian scientists! We have used next-generation sequencing (NGS) approach for deep sequencing of 56 genes previously associated with Crohn disease (CD) through genome-wide association studies (GWAS) and discovered new causal rare mutations in genes NOD2/CARD15, IL23R, CARD9, IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. The assotiation between mutation and disease was confirmed in followup genotyping of 12 000 Inflammatory bowel disease patients and more than 10000 controls, including 250 Slovenian IBD patients and 250 Slo controls. We extended the results of successful Genome wide association study GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
COBISS.SI-ID: 15421974
We were the first to discover the association between polymorphisms and haplotypes in 5q IBD5 region and refractory Crohn disease patients not responding to standard therapy and develping severe form of disease and complications such as fistulaes. We have contributed to development of biomarkers for personalized treatment of Crohn disease patients. In addition, we suggested SLC22AA5 gene as the best functional candidate in the 5q IBD5 region using anaylsis of genotype/gene expression corellations (eQTL analysis).
COBISS.SI-ID: 15110422