2008 Barcelona - European Society of Human Genetics

Molecular and biochemical basis of disease
P06.139
cARD15, tNF-alpha, iL23R and AtG16L1 genes polymorphisms
in Lithuanian patients with inflammatory bowel disease
J. Sventoraityte 1 , A. Zvirbliene 1 , R. Kwiatkowski 2 , G. Kiudelis 1 , L. Kupcinskas 1 ,
S. Schreiber 2 ;
1 Department of Gastroenterology, Kaunas University of Medicine, Kaunas,
Lithuania, 2 Institute of Clinical Molecular Biology, Christian – Albrechts – University,
Kiel, Germany.
Background . Numerous genome-wide and linkage studies have identified
and replicated significant association between inflammatory bowel
disease (IBD) development and polymorphisms of genes attributed to
recognition of bacterial products (CARD15), innate immune responses
(TNF-alpha, IL23R), and autophagosome pathway (ATG16L1) . Despite
large number of studies accumulated in this field, there is only
limited data on IBD genetic characteristics in East and Central Europe
region .
Aim and Methods . This research aimed to analyze the frequency of
the three CARD15 polymorphisms Arg702Trp (rs2066844), Gly908Arg
(rs2066845) and Leu1007finsC (rs2066847); two TNF-alpha promoter
polymorphisms -857C>T (rs1799724) and -308G>A (rs1800629);
IL23R polymorphism Arg381Gln (rs11209026); and ATG16L1 polymorphism
Thr300Ala (rs2241880) and their contribution to the development
of IBD in a cohort of unrelated Crohn’s disease (CD) (n=57),
ulcerative colitis (UC) (n=123) patients and healthy controls (n=182)
from the Lithuanian population .
Results . Carriage of CARD15 variants was more common in the CD
patients than in controls and UC patients (40 .4% CD versus 17 .6%
controls and 16 .3% UC, p