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Geir O. Skeie, MD, PhD; Janardan P. Pandey, BS, MS, PhD; Johan A. Aarli, MD, PhD; Nils E. Gilhus, MD, PhD

Arch Neurol. 1999;56:457-461.

Background  Tumor necrosis factor (TNF) and TNF- are proinflammatory cytokines thought to be involved in the pathogenesis of myasthenia gravis (MG).

Objective  To examine whether TNF polymorphisms are associated with MG, MG subgroups, and the presence of titin and ryanodine-receptor antibodies.

Patients and Methods  We did genotyping on 30 patients with MG and 92 healthy blood donors for 2 biallelic TNFA polymorphisms (G to A at positions -238 and -308) and 1 TNFB polymorphism (NcoI digestive site) using methods based on the polymerase chain reaction.

Results  Patients with thymoma were typically homozygous for both the TNFA*T1 and the TNFB*2 alleles, but patients having an early onset of MG without thymoma were carriers of the TNFA*T2 and TNFB*1 alleles. Patients without thymoma who had the titin antibody had the same high frequency of TNFA*T1 and TNFB*2 as patients with thymoma, whereas patients without the titin antibody carried the same allele, TNFA*T2 and TNFB*1, regardless of age and thymic disease. No association was found with acetylcholine-receptor levels or disease severity for any of the TNFA or TNFB polymorphisms.

Conclusion  Patients having MG, including those with thymoma, who have the titin antibody are most often homozygous for the TNFA*T1 and TNFB*2 alleles, whereas the presence of the TNFA*T2 and TNFB*1 alleles correlates with early-onset MG and the absence of titin antibodies.

From the Department of Neurology, Haukeland Hospital, University of Bergen, Bergen, Norway (Drs Skeie, Aarli, and Gilhus); and the Department of Microbiology and Immunology, Medical University of South Carolina, Charleston (Dr Pandey).

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