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

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Martins, Madalena; Williams, Adrienne H.; Comeau, Mary; Marion, Miranda; Ziegler, Julie T.; Freedman, Barry I.; Merrill, Joan T.; Glenn, Stuart B.; Kelly, Jennifer A.; Sivils, Kathy M.; James, Judith A.; Guthridge, Joel M.; Alarcón-Riquelme, Marta E.; Bae, Sang-Cheol; Kim, Jae-Hoon; Kim, Dam; Anaya, Juan-Manuel; Boackle, Susan A.; Criswell, Lindsey A.; Kimberly, Robert P.; Alarcón, Graciela S.; Brown, Elizabeth E.; Vilá, Luis M.; Petri, Michelle A.; Ramsey-Goldman, Rosalind; Niewold, Timothy B.; Tsao, Betty P.; Gilkeson, Gary S.; Kamen, Diane L.; Jacob, Chaim O.; ... view all 35 authors
  • Publisher: Nature Publishing Group
  • Related identifiers: doi: 10.1038/gene.2014.73, pmc: PMC4371129
  • Subject: Lupus Erythematosus, Systemic | European Continental Ancestry Group | Article | Haplotypes | T-Lymphocytes | Polymorphism, Single Nucleotide | Antigens, CD3 | Genetic Association Studies | Genetic Predisposition to Disease | Adult | Asian Continental Ancestry Group | Female | Humans | Male | Case-Control Studies

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... View more
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