Published in

Springer Nature [academic journals on nature.com], Genes and Immunity, 2(16), p. 142-150, 2015

DOI: 10.1038/gene.2014.73

Links

Tools

Export citation

Search in Google Scholar

Genetic Association of CD247 (CD3ζ) with SLE in a Large-Scale Multiethnic Study

Journal article published in 2015 by Madalena Martins ORCID, Adrienne H. Williams, Mary Comeau, Miranda Marion, Julie T. Ziegler, Barry I. Freedman, Joan T. Merrill, Stuart B. Glenn, Jennifer A. Kelly, Kathy M. Sivils, Judith A. James, Joel M. Guthridge, Marta E. Alarcón-Riquelme ORCID, Sang-Cheol Bae, Jae-Hoon Kim and other authors.
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

Abstract

A classic T-cell phenotype in Systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3ζ chain that alters TCR signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3ζ are not well established and require replication in independent cohorts. Our aim was therefore to examine, localize and validate CD247-SLE association in a large multi-ethnic population. We typed 44 contiguous CD247 SNPs in 8 922 SLE patients and 8 077 controls from four ethnically distinct populations. The strongest associations were found in the Asian population (11 SNPs in intron 1, 4.99×10−4