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Analysis of the association of HLA-DRB1, TNFα promoter and TNFR2 (TNFRSF1B) polymorphisms with SLE using transmission disequilibrium test

Genes & Immunity volume 2, pages 317–322 (2001)Cite this article

Abstract

A number of studies reported associations of HLA-DRB1, TNFα (TNF) promoter and TNF receptor II (TNFR2, TNFRSF1B) polymorphisms with systemic lupus erythematosus (SLE), however, the results have often been inconsistent. Such lack of consistency could partly derive from the population admixture involved in the case-control study. To avoid such a problem, polymorphisms in these genes were analyzed using transmission disequilibrium test (TDT) in Caucasian SLE families. Ninety-one Caucasian SLE family samples recruited in southern California were analyzed for the association with HLA-DRB1, TNF promoter positions at −1031, −863, −857 and −308, and TNFR2–196M/R polymorphisms. Significant transmission was observed for HLA-DRB1*1501, but not for HLA-DRB1*0301, nor for TNF haplotype that codes for −308A. Interestingly, TNF haplotype coding for −1031C, −863A, −857C showed a tendency of preferential nontransmission in the patients without lupus nephritis and in those with malar rash. No transmission distortion was observed for TNFR2–196R allele. These findings confirmed the association of HLA-DRB1*1501, but did not replicate that of the HLA-DRB1*0301, TNFA-308A and TNFR2-196R with SLE in this population. In addition, a possible disease-protective role for TNF haplotype coding for −1031C, −863A, −857C was suggested.

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Acknowledgements

The authors are indebted to Dr Jun Ohashi (Department of Human Genetics, Graduate School of Medicine, The University of Tokyo) for numerous helpful suggestions on the statistical analyses.

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Author notes

  1. N Tsuchiya and A Kawasaki: The first two authors contributed equally to this work.

Authors and Affiliations

  1. Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

    N Tsuchiya, A Kawasaki, T Komata & K Tokunaga

  2. Department of Medicine, University of California at Los Angeles, Los Angeles, CA, USA

    BP Tsao & JM Grossman

Authors
  1. N Tsuchiya
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  2. A Kawasaki
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  3. BP Tsao
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  4. T Komata
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  5. JM Grossman
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  6. K Tokunaga
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Corresponding author

Correspondence to N Tsuchiya.

Additional information

This study was supported by Grant-in-Aid for Scientific Research on Priority Areas (B), Grants-in-Aid for Scientific Research (B) from the Ministry of Education, Culture, Sports, Science and Technology, and a grant from the Ministry of Health, Labour and Welfare.

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Tsuchiya, N., Kawasaki, A., Tsao, B. et al. Analysis of the association of HLA-DRB1, TNFα promoter and TNFR2 (TNFRSF1B) polymorphisms with SLE using transmission disequilibrium test . Genes Immun 2, 317–322 (2001). https://doi.org/10.1038/sj.gene.6363783

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