caa a22 4500 469032839 CHVBK 20180323132748.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF00166831 doi (NATIONALLICENCE)springer-10.1007/BF00166831 Polymorphism in a T-cell receptor variable gene is associated with susceptibility to a juvenile rheumatoid arthritis subset [Elektronische Daten] [Walter Maksymowych, Christos Gabriel, Lorie Luyrink, Hector Melin-Aldana, Maruja Elma, Edward Giannini, Daniel Lovell, Catherine Van Kerckhove, Jeffrey Leiden, Edmund Choi, David Glass] This report demonstrates a T-cell receptor (Tcr) restriction fragment length polymorphism, defined by a Tcrb-V6.1 gene probe and Bgl II restriction enzyme, to be absolutely correlated with allelic variation in the coding sequence of a Tcrb-V6.1 gene. A pair of non-conservative amino acid substitutions distinguish the Tcrb-V6.1 allelic variants. An association of this Tcrb-V6.1 gene allelic variant with one form of juvenile rheumatoid arthritis (JRA) was established in a cohort of 126 patients. The association was observed in patients possessing the HLA-DQA1*0101 gene. Among HLA-DQA*0101 individuals, 19 of 26 patients (73.1%) carried one particular Tcrb-V6.1 gene allele as opposed to 11 of 33 controls (33%; p<0.005). Haplotypes carrying this HLA gene have previously been shown to confer increased risk for progression of arthritis in JRA. This demonstration of a disease-associated Tcrb-V gene allelic variant has not, to our knowledge, been previously reported and supports the contribution of polymorphism in the Tcr variable region genomic repertoire to human autoimmune disease. Springer-Verlag, 1992 Maksymowych Walter Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut Gabriel Christos Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut Luyrink Lorie Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut Melin-Aldana Hector Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut Elma Maruja Department of Molecular Genetics, Biochemistry and Microbiology, College of Medicine, University of Cincinnati, 45229, OH, USA aut Giannini Edward aut Lovell Daniel Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut Van Kerckhove Catherine Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut Leiden Jeffrey Departments of Internal Medicine and Microbiology/Immunology, Howard Hughes Medical Institute, University of Michigan Medical Center, Ann Arbor, MI, USA aut Choi Edmund Department of Molecular Genetics, Biochemistry and Microbiology, College of Medicine, University of Cincinnati, 45229, OH, USA aut Glass David Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut Immunogenetics Springer-Verlag 35/4(1992-03-01), 257-262 0093-7711 35:4<257 1992 35 251 https://doi.org/10.1007/BF00166831 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00166831 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Maksymowych Walter Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Gabriel Christos Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Luyrink Lorie Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Melin-Aldana Hector Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Elma Maruja Department of Molecular Genetics, Biochemistry and Microbiology, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Giannini Edward aut NATIONALLICENCE 700 1- Lovell Daniel Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Van Kerckhove Catherine Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Leiden Jeffrey Departments of Internal Medicine and Microbiology/Immunology, Howard Hughes Medical Institute, University of Michigan Medical Center, Ann Arbor, MI, USA aut NATIONALLICENCE 700 1- Choi Edmund Department of Molecular Genetics, Biochemistry and Microbiology, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 700 1- Glass David Department of Pediatrics, College of Medicine, University of Cincinnati, 45229, OH, USA aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 35/4(1992-03-01), 257-262 0093-7711 35:4<257 1992 35 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer