Polymorphism in a T-cell receptor variable gene is associated with susceptibility to a juvenile rheumatoid arthritis subset

Immunogenetics. 1992;35(4):257-62. doi: 10.1007/BF00166831.

Abstract

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 less than 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Arthritis, Juvenile / genetics*
  • Bacterial Proteins*
  • Base Sequence
  • Chromosomes, Human, Pair 7
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • HLA-DQ Antigens / genetics*
  • Humans
  • Immunoglobulin Variable Region / genetics*
  • Molecular Sequence Data
  • Polymorphism, Restriction Fragment Length*
  • Receptors, Antigen, T-Cell, alpha-beta / genetics*
  • White People / genetics

Substances

  • Bacterial Proteins
  • HLA-DQ Antigens
  • Immunoglobulin Variable Region
  • Receptors, Antigen, T-Cell, alpha-beta
  • BglII endonuclease
  • Deoxyribonucleases, Type II Site-Specific

Associated data

  • GENBANK/M62548
  • GENBANK/M62549
  • GENBANK/M62550
  • GENBANK/M62551
  • GENBANK/M62552
  • GENBANK/M62553
  • GENBANK/M67511
  • GENBANK/M67512
  • GENBANK/M97943
  • GENBANK/S86617
  • GENBANK/S86618
  • GENBANK/S87165