Læknablaðið : fylgirit - 03.01.2017, Síða 68

X V I I I V Í S I N D A R Á Ð S T E F N A H Í
F Y L G I R I T 9 1
68 LÆKNAblaðið/Fylgirit 91 2017/103
MCF7 breast cancer cell line. Of the remaining fusion genes, two are in
the process of being verified and four may represent passengers that are
unlikely to play a role in cancer.
Conclusions: Additional approaches are underway to identify “promis-
ing” genes with a role in breast cancer.
V 19 The FCN2 g.6424 functional polymorphism in MBL deficiency
Jóhanna Guðmundsdóttir1, Helga Bjarnadóttir1, Harpa S. Halldórsdóttir1, Guðný
Eiríksdóttir2, Vilmundur Guðnason2, Björn R. Lúðvíksson1
1Department of Immunology, Landspítali University-Hospital, 2The Icelandic Heart Association
hbjarna@landspitali.is
Introduction: Ficolin-2 and mannan-binding-lectin (MBL) are among
five pattern-recognition lectins that initiate complement. MBL deficiency
(MBLD) exists among 10% of Caucasians, some of which have infectious
complications whereas others are healthy. Thus, MBL may be redund-
ant. We hypothesized that a genetic variant, that increases the binding
capacity of ficolin-2, may be common in individuals with MBL defects to
compensate for the lack of functional MBL.
Methods and data: A total of 2,642 individuals from the AGES-Reykjavik
Study were genotyped for the functional variants g.6424 G>T in the FCN2
gene and -221 C>G, g.5219 C>T, g.5226 G>A, and g.5235 G>A in the MBL2
gene to determine high producing (YA/YA, XA/YA, XA/XA, YA/O), low
producing (XA/O) and dysfunctional (O/O) MBL genotypes. Chi-square
test was used to compare allele frequency.
Results: The distribution of the MBL genotypes in the cohort was YA/YA
(35%), XA/YA (24%), XA/XA (5%), YA/O (24%), XA/O (7%) and O/O (5%)
and the frequency of g.6424 in these groups was 0.100, 0.08, 0.108, 0.109,
0.131, and 0.147, respectively. The g.6424 allele tended to be more comm-
on in low producing genotypes (XA/O) (0.131) versus high producing
genotypes (YA/YA) (0.100) (p=0.06). Moreover, the g.6424 variant was
significantly more frequent among dysfunctional genotypes (O/O) (0.147)
versus YA/YA (0.100) (p>0.05).
Conclusions: Our findings demonstrate that a significant number of
individuals with MBL defects have a more functional version of ficolin-2.
Thus, the g.6424 variant may be protective in MBLD and may explain why
a proportion of MBL deficient individuals are healthy.
V 20 Surveillance of MRSA in the Nordic countries: Combining spa-
typing and GIS mapping
Anders R. Larsen1, Laura Lindholm2, Sara Hæggman3, Gunnsteinn Haraldsson4,
Kjersti W. Larssen5, Lillian Marstein5, Andreas Petersen1, Jaana Vuopio2, Robert
Skov1, Frode W. Gran5
1Statens Serum Institut, 2National Institute for Health and Welfare, 3Public Health Agency of
Sweden, 4Faculty of Medicine, Biomedical center, UI, 5St. Olav Hospital
gah@hi.is
Introduction: Staphylococcus aureus is an important pathogen, often causing
serious infections. Methicillin resistant S. aureus (MRSA), was at first linked
to hospitals and healthcare institutions, but is now getting more and more
common in the community. The aim was to compare the national spa-typing
data geospatially to look for shared trends and unique MRSA strain types
in the Nordic countries by a map-based interface utilizing Google Maps.
Methods and data: A total of 21,626 MRSA isolates, representing the
total number of notified MRSA cases in the Nordic countries from
2009-2012 with information on spa-types and GIS- coordinates were
gathered. Additional information on date of isolation, PVL presence
and MLST-CC annotation were included as searchable parameters.
Results: The Nordic countries are all MRSA low-prevalence countries
experiencing similar increase during the last decade. spa-typing, as an
excellent tool for exchange of typing data, revealed a large diversity,
including 1,275 different spa types of which 571 were singletons. The
10 most frequent spa types accounted for 48% of the total isolates. Most
of the major spa-types were present in all of the countries but several
country specific differences were observed, e.g. Finland reported large
numbers (1309/1455) of t067 in relation to a long lasting hospital outbr-
eak, whereas Denmark reported 508/541 of the pig-related t034 MRSA.
Conclusions:The usage of the web based geospatial presentation provides
an searchable visualization with easy access to typing results. A future
goal is that clinical data can be linked to each isolate.
V 21 Biological responsiveness to a-TNF treatment in RA patients;
Analysis of T cell subsets
Helga K. Einarsdóttir1, Una Bjarnadóttir2, Elínborg Stefánsdóttir2, Björn
Guðbjörnsson3,4,5, Björn R. Lúðvíksson1,4,5
1Department of Immunology, Landspítali University Hospital, 2Department of Rheumatology,
Landspitali University Hospital, 3 Center for Rheumatology Research, Landspitali University
Hospital, 4 University of Iceland, Faculty of Medicine, 5 eXpeda ehf
h.k.einarsdottir@gmail.com
Introduction: Rheumatoid arthritis (RA) is a progressive and debilita-
ting inflammatory autoimmune disorder that primarily affects join-
ts. It has been published that Th1 and Th17 are increased and Treg
decreased in RA. There have been indications that anti-TNF therapy
may increase Treg and decrease Th1 and Th17 in responding pati-
ents, but the results have been inconclusive. Our aim is to evaluate the
biological responsiveness to an a-TNF mAb therapy in 10 RA patients.
T cell subsets will be measured before and 7 days and 6 months after
commencement of a-TNF treatment by a multi parameter flow assay.
Materials and Methods: 18 ml of blood is collected from RA patients in
EDTA tubes and mononuclear cells isolated by ficoll-paque density gradi-
ent at days 0, 7 and at 6 months after starting treatment. Part of the cells
is stimulated by a-CD3 and a-CD28 for 2 days and supernatant collect-
ed for a cytokine secretion assay. The rest of the cells are stimulated for
4 hours with PMA and ionomycin in the presence of brefeldin A. Cells
are stained for flow cytometry to detect Th1, Th17 and Treg subsets.
Results: Preliminary analysis on 7 out of 10 donors after 6 months of ther-
apy reveals a significant decrease in Th17 (from 3,7 to 0,5%; p≤0,05) and
Tc17 populations (from 5 to 0,7%; p≤0,05). Patients also had significantly
more Th17 and Tc17 cells before treatment compared to healthy controls
(3,7 vs. 0,7%; p≤0,01 and 5 vs. 0,8% p≤0,01).
Conclusions: Our preliminary findings suggest that the known effecti-
veness of a-TNF-alpha therapy in RA is not only related to its potential
negative regulatory effect upon CD4+Th17 driven inflammatory response,
but also on CD8+ Tc17 effector T-cells.
V 22 Variability in apoptosis patterns in cfDNA in body fluids in
healthy individuals
Bjarki Guðmundsson1,2, Olof Hammarlund1,2, Joakim Lindblad1,2, María L.
Sigurðardottir1,3, Salvör Rafnsdóttir1,3, Albert Sigurðsson1, Hans G. Þormar1,3, Jón J.
Jónsson1,2
1Department of Biochemistry and Molecular Biology, University of Iceland, 2Department of
Genetics and Molecular Medicine, Landspitali – National University Hospital, 3Lifeind ehf.
bjarkigu@hi.is
Introduction: Cell-free DNA (cfDNA) in plasma is used for fetal sex-