JRA & Cytokine Genes in the Czech Population

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Association of Single Nucleotide Polymorphisms within Cytokine Genes

with Juvenile Idiopathic Arthritis in the Czech Population

(J Rheumatol 2004;31:1206-10)

http://www.jrheum.com/abstracts/abstracts04/1206.html

ABSTRACT.

Objective. To examine the possible association of juvenile idiopathic

arthritis (JIA) with polymorphisms within cytokine genes in the Czech

population.

Methods. In a case-control study, genotypes of 130 patients with JIA (63

male, 67 female; age at onset 7.6 ± 4.4 yrs; 43 oligoarticular, 72

polyarticular, 15 systemic form) were compared to 102 healthy unrelated

blood donors.

Using the polymerase chain reaction technique with sequence-specific

primers from the 13th IHWG workshop, we analyzed 19 single nucleotide

polymorphisms within 12 different cytokine genes [interleukin (IL)-1a,

IL-1ß, IL-2, IL-4, IL-6, IL-10, IL-12, transforming growth factor

(TGF)-ß, interferon (IFN)-g], and related molecules (IL-1R, IL-1RA,

IL-4Ra). Genotype frequencies were compared using chi-square analysis,

and the significance level was corrected for the number of independent

tests.

Results. Significant positive association was found for the G allele of

the IL-4 –1098 T/G polymorphism, which was carried by 10% of cases and

25% of controls. Also, a nonsignificant increase in the frequency of the

IL-1ß +3962 C allele was detected in cases (96%) versus controls (84%).

We did not replicate previously found associations with the IL-1a, IL-6,

IL-10, and IL-1RA polymorphisms.

Conclusion. Our study showed association with JIA for the IL-4 –1098 T/G

polymorphism. It also underlines the genetic contribution of IL-1

polymorphisms to the pathogenesis of JIA, as another polymorphism within

the IL-1ß may influence the risk of the disease.

Key Indexing Terms:

JUVENILE IDIOPATHIC ARTHRITIS

CYTOKINE

GENETIC ASSOCIATION

SINGLE NUCLEOTIDE POLYMORPHISM

From the Department of Paediatrics, Motol University Hospital, and the

Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

Supported in part by the Lvice Foundation, Ministry of Education Grant

111300003, and Ministry of Health Grant 6843-3.

O. Cinek, MD, PhD, Research Fellow; P. Vavrincová, MD, Rheumatology

Consultant; P. Drevínek, MD, Research Fellow; P. Sedláková, Laboratory

Assistant; J. Vavrinec, MD, PhD, Professor of Paediatrics, Motol

University Hospital; I. Striz, MD, PhD, Professor of Immunology; A.

Slavcev, MD, PhD, Head of the Laboratory of Immunogenetics, Institute

for Clinical and Experimental Medicine.

Address reprint requests to Dr. O. Cinek, Department of Paediatrics,

Motol University Hospital, V Uvalu 84, CZ-150 06, The Czech Republic.

E-mail: Ondrej.Cinek@...