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New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus

Genes & Immunity volume 1, pages 501–503 (2000)Cite this article

Abstract

We recently reported the association of the allele coding for Arg at the position 196 (196R: nucleotide [nt] 587G) of tumor necrosis factor receptor 2 (TNFR2, TNF-R75) with systemic lupus erythematosus (SLE) in Japanese. In the present study, we completed the variation screening of the entire coding region of TNFR2. Three new single nucleotide polymorphisms within the coding sequence (cSNPs), as well as several variations within the promoter, introns and 3′-untranslated region (3′UTR), were identified. Among the new SNPs, nt168G, a synonymous substitution (K56K), was in tight linkage disequilibrium with nt587G. Two other cSNPs, nt543 (C→T) (P181P) and nt694 (G→A) (E232K), were not significantly associated with SLE. Thus, among the non-synonymous cSNPs, only nt587 (T→G) (M196R) was found to be significantly associated with SLE in Japanese.

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Authors and Affiliations

  1. Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-0033, Tokyo, Japan

    N Tsuchiya, T Komata, M Matsushita, J Ohashi & K Tokunaga

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  1. N Tsuchiya
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  2. T Komata
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  3. M Matsushita
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  4. J Ohashi
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  5. K Tokunaga
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Corresponding author

Correspondence to N Tsuchiya.

Additional information

This study was supported by the Grant-in-Aid for Scientific Research (B) (11470505) from the Ministry of Education, Science, Sports and Culture. The nucleotide sequence data reported in this paper will appear in the DDBJ/EMBL/GenBank nucleotide sequence databases with the accession numbers AB030949-53.

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Tsuchiya, N., Komata, T., Matsushita, M. et al. New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus. Genes Immun 1, 501–503 (2000). https://doi.org/10.1038/sj.gene.6363700

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  • DOI: https://doi.org/10.1038/sj.gene.6363700

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