Hohjoh H, Terada N, Kawashima M, Honda Y, Tokunaga K
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Japan.
Tissue Antigens. 2000 Nov;56(5):446-8. doi: 10.1034/j.1399-0039.2000.560508.x.
We report on the association study of the tumor necrosis factor receptor 2 (TNFR2) gene with human narcolepsy. A single-nucleotide polymorphism in TNFR2, which is involved in an amino acid substitution [methionine(M)/arginine(R)] at position 196, was investigated in 149 Japanese narcoleptic patients and 204 healthy individuals as controls. Results reveal that the frequency of the TNFR2-196R allele significantly increased in the patients as compared with that in the controls (P=0.029), suggesting that TNFR2 is likely associated with the susceptibility to narcolepsy. In addition, the analyses of the relationship of TNFR2 and TNF-alpha with the susceptibility to narcolepsy indicate the possibility that an additive effect on the susceptibility to the disorder lies between TNFR2-196R and TNF-alpha(-857T) alleles.