2009 Vienna - European Society of Human Genetics

Complex traits and polygenic disorders
differences (p>0.05) in the frequencies of TF C1/C2 genotypes and alleles
between MS patients and controls, and we found no differences
in clinical parameters in carriers of the C2 allele.
Our results indicate that C282Y mutation may be risk factor with respect
to MS susceptibility and probably a good predictor for early onset
of MS. The possible protective effects of H63D polymorphisms was
less pronounced. Regarding MS susceptibility or disease progression
no gene-gene interaction between HFE and TF could be established.
P09.079
Association study of the interleukin-2/interleukin-2 receptor
alpha (iL2/iL2RA) system with multiple sclerosis
F. Matesanz1 , M. Fedetz1 , D. Ndagire1 , A. Catalá-Rabasa1 , Ó. Fernández2 , A.
Alcina1 ;
1Instituto de Parasitología y Biomedicina López Neyra, CSIC, Armilla/Granada,
Spain, 2Hospital Carlos Haya, Málaga, Spain.
IL2/IL2RA system is involved in T helper and T suppressor cell activity
and has a major role in the immune response and in the control of
autoimmunity. It has been reported association of the IL2 and IL2RA
loci with several diseases as type 1 diabetes (T1D), celiac disease and
multiple sclerosis (MS) in independent studies. This overlap of risk loci
among autoimmune diseases raises the possibility of sharing common
or distinct pathological mechanism that has to be deciphered. We performed
a case-control association study in MS with 805 patients and
952 matched Caucasian controls from the South of Spain with several
polymorphisms in these loci. We have found differences between the
polymorphisms associated and risk alleles among all of them. Our results
replicate and extend the association found in the IL2/IL2RA loci
with MS. These differences with other diseases may reflect distinct
roles that such gene variants may have in these pathologies.
P09.080
interferon regulatory factor 5 (iRF5) gene variants are associated
with multiple sclerosis in three distinct populations
C. Wang1 , G. Kristjansdottir1 , J. K. Sandling1 , A. Bonetti2 , I. M. Roos3 , L. Milani1 ,
A. Syvänen1 ;
1 2 Uppsala University, Uppsala, Sweden, Helsinki University, Helsinki, Finland,
3Karolinska Institutet, Stockholm, Sweden.
Multiple sclerosis (MS) is an inflammatory disorder that mainly damages
the central nervous system. Here we investigated whether this
disease would be associated with the variants of interferon regulatory
factor 5 (IRF5) gene, which encodes a transcription factor involving
both in the type I interferon and the toll-like receptor signaling pathways.
In total nine single nucleotide polymorphisms (SNPs) and one
insertion-deletion polymorphism (indel) in the IRF5 gene were genotyped
in a collection of 2337 patients with MS and 2813 controls from
three populations: two case-control cohorts from Spain and Sweden,
and a set of MS trio families from Finland. Two SNPs (rs4728142,
rs3807306), as well as the 5 bp indel located in the promoter and
first intron of the IRF5 gene, showed association signals with values
of p