Journal article

Publication year: 2005

Pages: 211-216

Journal: Genes and Immunity

Volume number: 6

Issue number: 3

ISSN: 1466-4879

eISSN: 1476-5470

Open access status: Bronze

DOI Link: https://doi.org/10.1038/sj.gene.6364183

Publisher: Springer Nature [academic journals on nature.com]

Abstract: 
Interleukin (IL)-18 is an important mediator of innate and adaptive immunity. We searched for an association of IL-18 promoter single-nucleotide polymorphisms ( SNP) with rheumatoid arthritis ( RA) in Caucasians. The entire study population was composed of two independent cohorts from Germany ( n = 200) and Scotland ( n = 410). Presence of IL-18 SNP at positions - 607 and - 137 was determined by allele-specific PCR in 327 RA patients and 283 healthy donors (HD). Diplotype distributions of both loci were in Hardy - Weinberg equilibrium (HWE) in the German and Scottish HD cohorts. In contrast, locus - 607 was in HW disequilibrium in German, and locus - 137 in Scottish RA patients. Diplotypic exact chi(2) tests suggested that - 607CC was overrepresented in German, and - 137CC in Scottish RA patients, but conservative chi(2) trend analyses could not prove any significant disease association of these single loci. SNP - 607 and - 137 were in strong linkage disequilibrium. The - 607C* - 137C haplotype was more prevalent in German RA (3.2 vs 1.2%) and in Scottish RA patients ( 4.1 vs 0.9%) than in the respective HD cohorts. These observations suggest that SNP of both positions contribute to the genetic background of RA pathogenesis.

Harvard Citation style: Gracie, J., Koyama, N., Murdoch, J., Field, M., McGarry, F., Crilly, A., et al. (2005) Disease association of two distinct interleukin-18 promoter polymorphisms in Caucasian rheumatoid arthritis patients, Genes and Immunity, 6(3), pp. 211-216. https://doi.org/10.1038/sj.gene.6364183

APA Citation style: Gracie, J., Koyama, N., Murdoch, J., Field, M., McGarry, F., Crilly, A., Schobel, A., Madhok, R., Pons-Kühnemann, J., McInnes, I., & Möller, B. (2005). Disease association of two distinct interleukin-18 promoter polymorphisms in Caucasian rheumatoid arthritis patients. Genes and Immunity. 6(3), 211-216. https://doi.org/10.1038/sj.gene.6364183