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Polymorphisms in the IL-6 receptor (IL-6R) gene: strong evidence that serum levels of soluble IL-6R are genetically influenced

Genes & Immunity volume 5, pages 513–516 (2004)Cite this article

Abstract

We have investigated the association of the recently identified IL6R polymorphisms with the serum levels of soluble IL-6 receptor (sIL-6R). sIL-6R is generated by shedding of the membrane-bound receptor (IL-6Rα) or alternative mRNA splicing. In total, 115 healthy volunteers were genotyped, with 70 of them analyzed for sIL-6R levels. Using the PCR/RFLP methods, two important polymorphic sites were selected for genotyping: the 48892A/C (D358A) in exon 9 and the −183G/A in the promoter region. In exon 9, C allele carriers had higher sIL-6R level (P<0.0001) showing that this sequence variation, which corresponds to the proteolytic cleavage site of IL-6Rα, strongly influences the serum sIL-6R levels. In the promoter region, G allele carriers had lower sIL-6R levels (P<0.0082) compared with the A allele carriers. This could be attributed to the linkage disequilibrium (D′=0.54, χ2=51.3, P<0.0001) between the −183G/A and the 48892A/C gene polymorphisms.

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Acknowledgements

We are grateful to Drs Emire Gou and Ikuyo Ikezawa (Division of Periodontology, Niigata University) for their technical assistance and for the collection of samples.

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Authors and Affiliations

  1. Division of Periodontology, Department of Oral Biological Science, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan

    J C Galicia, H Tai, Y Komatsu, Y Shimada & H Yoshie

  2. Department of Medical Informatics, Niigata University Medical and Dental Hospital, Niigata, Japan

    K Akazawa

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  1. J C Galicia
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  2. H Tai
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  3. Y Komatsu
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  4. Y Shimada
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Correspondence to H Yoshie.

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Galicia, J., Tai, H., Komatsu, Y. et al. Polymorphisms in the IL-6 receptor (IL-6R) gene: strong evidence that serum levels of soluble IL-6R are genetically influenced. Genes Immun 5, 513–516 (2004). https://doi.org/10.1038/sj.gene.6364120

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