Different Distribution of T Cell Receptor β-Chain Haplotypes in Mixed Connective Tissue Disease and Systemic Lupus Erythematosus

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Abstract
Mixed connective tissue disease (MCTD) and systemic lupus erythematosus (SLE) are autoimmune diseases with a genetic background, and it is reasonable to suggest that aberrations in T cell receptor (TCR) genes could contribute to these diseases, as they play an important role in immune regulation. We studied TCR β-chain gene segments Vβ8, Vβ11 and Cβ with restriction fragment length polymorphism (RFLP) in MCTD and SLE patients and controls. Haplotypes could be assigned in individuals who were homozygous for two or three of these three loci, whereupon the haplotype 2/25/10 (Vβ8/V11/Cβ) was found to be under-represented in MCTD (P = 0.029). The frequencies of individual alleles in both groups were similar to those of the controls, whereas the number of homozygotes within Vβ8 gene (23/23 kb and 2/2 kb) was increased in MCTD (P = 0.028). It is concluded that the distribution of TCR β-chain genes could be aberrant in MCTD and could play a role in susceptibility, whereas the TCR β-chain gene distribution in the SLE patients did not differ from that of the controls.