Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study

A classic T-cell phenotype in systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3ζ chain that alters T-cell receptor signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3ζ are not well established and require replication in indepe...

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Veröffentlicht in:	Genes and immunity 2015-03, Vol.16 (2), p.142-150
Hauptverfasser:	Martins, M, Williams, A H, Comeau, M, Marion, M, Ziegler, J T, Freedman, B I, Merrill, J T, Glenn, S B, Kelly, J A, Sivils, K M, James, J A, Guthridge, J M, Alarcón-Riquelme, M E, Bae, S-C, Kim, J-H, Kim, D, Anaya, J-M, Boackle, S A, Criswell, L A, Kimberly, R P, Alarcón, G S, Brown, E E, Vilá, L M, Petri, M A, Ramsey-Goldman, R, Niewold, T B, Tsao, B P, Gilkeson, G S, Kamen, D L, Jacob, C O, Stevens, A M, Gaffney, P M, Harley, J B, Langefeld, C D, Fesel, C
Format:	Artikel
Sprache:	eng
Schlagworte:	45 631/208/205 Adult Analysis Asian Continental Ancestry Group - genetics Association analysis Autoimmune diseases Biomedical and Life Sciences Biomedicine Cancer Research Care and treatment Case-Control Studies CD3 Complex - genetics Diagnosis European Continental Ancestry Group - genetics Female Gene Expression Gene frequency Genetic analysis Genetic aspects Genetic Association Studies Genetic Predisposition to Disease Haplotypes Health aspects Human Genetics Humans Immunology Lupus Erythematosus, Systemic - ethnology Lupus Erythematosus, Systemic - genetics Lymphocytes T Male original-article Phenotypes Polymorphism, Single Nucleotide Population genetics Single nucleotide polymorphisms Single-nucleotide polymorphism Systemic lupus erythematosus T cell receptors T cells T-Lymphocytes - immunology
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Zusammenfassung:	A classic T-cell phenotype in systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3ζ chain that alters T-cell receptor 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 multiethnic population. We typed 44 contiguous CD247 single-nucleotide polymorphisms (SNPs) in 8922 SLE patients and 8077 controls from four ethnically distinct populations. The strongest associations were found in the Asian population (11 SNPs in intron 1, 4.99 × 10 −4 < P
ISSN:	1466-4879 1476-5470
DOI:	10.1038/gene.2014.73