2017 年 48 巻 2 号 p. 21-26
Background: Tumor necrosis factor (TNF) blockers are highly effective in RA treatment, have been used widely for rheumatoid arthritis (RA) therapy worldwide, and can result in remission in combination with other disease-modifying antirheumatic drugs. However, it was reported that there are large interindividual differences in therapeutic responses to TNF blockers. In addition, there are few studies comparing ethnic and gender differences in allele frequencies of TNF-α polymorphisms. To obtain fundamental information for the establishment of personalized pharmacotherapy with TNF blockers, we investigated allele and genotype frequencies and gender differences in TNF-α polymorphisms among healthy Japanese adults and RA patients, and ethnic differences by comparing literature data.
Methods: We genotyped 292 healthy Japanese adults and 153 Japanese RA patients for TNF-α polymorphisms (TNF −238G >A, −308G>A, −857C>T) using the polymerase chain reaction method. Pearson's chi-square test was used to compare the allele and genotype frequencies of TNF-α polymorphisms among gender and ethnic groups.
Results: In healthy Japanese adults and RA patients, there were no associations between TNF-α genotypes and gender differences. However, we found a significant difference in the allele and genotype frequencies of TNF-α −308G>A and −857C>T between a Japanese population and Caucasians.
Conclusion: The study showed a significant difference in the allele and genotype frequencies of TNF-α −308G>A and −857C>T between a Japanese population and Caucasians, but there were no associations between TNF-α genotypes and gender differences in healthy Japanese adults and RA patients. Further study is necessary to investigate these associations in clinical studies whether the differences in allelic frequencies in ethnic groups contribute to the variations in response and toxicity of TNF blockers.
