Analysis of the association of hla-drb1, tnfα promoter and tnfr2 (tnfrsf1b) polymorphisms with sle using transmission disequilibrium test

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

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Read our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS HAPLOTYPES OF _FOXP3_ GENETIC VARIANTS ARE ASSOCIATED WITH SUSCEPTIBILITY, AUTOANTIBODIES, AND TGF-Β1 IN

PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS Article Open access 08 March 2021 TRANSMISSION DISEQUILIBRIUM ANALYSIS OF WHOLE GENOME DATA IN CHILDHOOD-ONSET SYSTEMIC LUPUS ERYTHEMATOSUS Article

24 July 2023 IDENTIFICATION OF 38 NOVEL LOCI FOR SYSTEMIC LUPUS ERYTHEMATOSUS AND GENETIC HETEROGENEITY BETWEEN ANCESTRAL GROUPS Article Open access 03 February 2021 REFERENCES * Harley JB,

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Download references 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. AUTHOR INFORMATION Author notes * N Tsuchiya and A Kawasaki: The first two authors contributed equally to this work. AUTHORS AND AFFILIATIONS *

Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan N Tsuchiya, A Kawasaki, T Komata & K Tokunaga * Department of Medicine, University of

California at Los Angeles, Los Angeles, CA, USA BP Tsao & JM Grossman Authors * N Tsuchiya View author publications You can also search for this author inPubMed Google Scholar * A

Kawasaki View author publications You can also search for this author inPubMed Google Scholar * BP Tsao View author publications You can also search for this author inPubMed Google Scholar *

T Komata View author publications You can also search for this author inPubMed Google Scholar * JM Grossman View author publications You can also search for this author inPubMed Google

Scholar * K Tokunaga View author publications You can also search for this author inPubMed Google Scholar 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. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE 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 Download citation * Received: 06 April 2001 * Revised: 18 June 2001 * Accepted: 22 June 2001 * Published: 17 October 2001 * Issue Date: 01

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HLA-DRB1 * TNF * TNFR2 * TDT * genetics