Poster abstracts
Pharmacogenetics, Hirszfeld Institute of Immunology and Experimental
Therapy, Polish Academy of Sciences, Wroclaw, Poland
Introduction: Polymorphism within the miR-499 has been reported
to be associated with susceptibility to rheumatoid arthritis (RA)
in various populations.
Objectives: Our study aimed to find out whether similar associa-
tion could be observed also in Polish population in both RA and
psoriatic arthritis (PsA) patients.
Methods: For this purpose 359 individuals were studied, including
111 RA patients, 86 patients with PsA and 162 healthy blood
donors that served as a control group. Genotyping for miR-499
rs3746444 T/C was performed using a LightSNiP assay.
Results: Distribution of the miRNA-499 alleles and genotypes
was similar in RA patients and controls. Among RA patients
those carrying the CC homozygous genotype presented with
lower DAS28 at diagnosis (0.027) but higher CRP levels after 12
weeks of anti-TNF treatment (p = 0.042). Interestingly, the TT
genotype (rs3746444) was overexpressed in patients with PsA
as compared to controls (OR = 1.85, p = 0.034) but its frequency
was not significantly different when compared to RA cases. This
polymorphism was also not found to be associated with clinical
parameters in PsA patients.
Conclusions: These results show that miR-499 rs3746444 T/C
polymorphism may constitute a risk factor for psoriatic arthritis
development.
P086
ASSOCIATION BETWEEN INFLAMMASOME-RELATED
POLYMORPHISMS AND CLINICAL PHENOTYPES OF
PSORIATIC ARTHRITIS
Kristina Juneblad, Gerd-Marie Alenius
Department of Public Health and Clinical Mediciine, Rheumatology, Uni-
versity Hospital, Umeå
Introduction: Psoriatic Arthritis (PsA) disease expression can
vary from mild mono-/oligoarthritis to severe erosive polyarthritis
comparable with Rheumatoid Arthritis (RA), with or without axial
involvement, and manifestations such as dactylitis and enthesitis
are common. Markers of systemic inflammation (ESR or CRP) are
generally unhelpful as markers of disease severity since elevated
in only 50% of cases.
In recent years, research on the interleukin 1β (IL1 β)–regulating
protein complex, called the inflammasome, has shown interesting
associations with various inflammatory diseases. E.g. for RA (1)
and psoriasis (Pso) (2,3) associations with genetic polymorphisms
in genes related to the inflammasome has been discovered. So
far, no studies investigating genetic polymorphisms in inflam-
masome genes in patients with Psoriatic Arthritis (PsA) have
been published.
Aim: To analyse different single nucleotide polymorphisms
(SNP:s) in genes related to the inflammasome in relation to dif-
ferent disease phenotypes of Psoriatic Arthritis (PsA).
Methods: DNA from 771 PsA patients from Northern Sweden were
analyzed for different single nucleotide polymorphisms (SNPs) in
NLRP3 ( rs35829419 (NLRP3-Q750K), rs10733113, rs4353135),
CARD8 (CARD8-C10X, rs 2043211) and NLRP1 (rs8079034,
rs878329) in relation to different phenotypes of PsA.
Results: A significant association was seen with NLRP1 rs878329C
and patients with axial involvement of disease. When different
genotypes were compared, significantly higher frequency of ge-
notype CC were detected in the subgroup with axial involvement
of disease. In addition, NLRP1 rs8079034T was significantly
associated with prescription of a csDMARD. Also, the NLRP3
rs10733113 showed association with the G-allele in patients with
a skin disease with an early onset (Pso type1, onset < 40 years)
and in the subgroup of PsA with destructive-/deforming disease
significant association was found with the major allele, C, of
NLRP3 Q705K rs35829419. (Table 1)
37
Conclusions: In the study, we found association with different
phenotypes of PsA and different polymorphisms in inflammasome
genes. The results could indicate a possible role of inflammasomes
in different disease phenotypes of PsA and make further studies
in the area of interest.
References:
1. Kastbom A, Verma D, Eriksson P et al. Rheumatol 2008;47:415-7.
2. Carlström M, Ekman AK, Petersson S et al. Exp Dermatol 2012;21:932-
7.
3. Ekman AK, Verma D, Fredrikson M, Bivik C and Enerbäck C. Br J
Dermatol 2014;171:1517-20.
Table 1. Genotype and allele frequencies in different PsA disease expressions #
n
NLRP1 rs878329
Axial disease
Peripheral disease
NLRP3 Q705K
rs35829