Avtor/Urednik		Potočnik, Uroš; Cerar, Anton; Jeruc, Jera; Ferkolj, Ivan; Dean, Michael; Glavač, Damjan
Naslov		Molecular diagnostic and prognostic markers in inflammatory bowel diseases
Prevedeni naslov		Molekularno diagnostični in napovedni označevalci pri kroničnih vnetjih črevesa
Tip		članek
Vir		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Leto izdaje		2005
Obseg		str. 221-30
Jezik		eng
Abstrakt		Human inflammatory bowel diseases (IBD), usually classified into Crohn's disease (CD) and ulcerative colitis (UC), are complex diseases in which environmental factors and genes play a role. Substantial progress has recently been made in IBD genetic research and mutations and functional polymorphisms in several genes have been associated with Crohn disease (NOD2/CARD15, OCTN1, OCTN2). with ulcerative colitis (MDR1 / ABCB1 ) or with both diseases (DLG5, HLA, ICAM-1, TLR4). In addition, polymorphisms in FCGR3A have been associated with Inflaximab (antibody against TNF alpha) treatment outcome in CD patients. We use a combination of different approaches in our disease association and pharmacogenomic studies, including haplotype analysis, single nucleotide polymorphism (SNP) analysis in candidate genes, disease pathway analysis and microarray analysis in Slovenian IBD patients. We have identified a novel association between multidrug resistance 1 (MDR/ABCB1) gene polymorphisms in intron 13 (rs2235035) and in intron 16 (rs1922242) and haplotypes defined by SNPs in exons 12 (1236 C>A), 21 (A893S) and 26 (3435 C>T), and both UC patients and refractory Crohn disease patients who do not respond to standard therapy with glucocorticoids and immunomodulators, including patients that develop fistulas. The identification of navel susceptibility genes will lead to better understanding disease pathophysiology, the discovery of new therapeutic targets and better disease management.
Deskriptorji		INFLAMMATORY BOWEL DISEASES POLYMERASE CHAIN REACTION HAPLOTYPES IMMUNOHISTOCHEMISTRY