Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population

Sung Mi Cho, Ju Young Kim, Ha Jung Ryu, Jae Jung Kim, Hyun Hee Kim, Joo Hyun Park, Hung Tae Kim, Kyung Hee Kim, Hye Young Cho, Bermseok Oh, Chan Park, Kuchan Kimm, Inho Jo, Jong Eun Lee, Hyoung Doo Shin, Jong Keuk Lee

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


The tumor necrosis factor (TNF) and TNF receptor (TNF-TNFR) superfamily plays crucial roles in immune regulation and host immune responses. The superfamily has been also associated with many immune-mediated diseases such as asthma, rheumatoid arthritis, inflammatory bowel disease, and diabetes. In order to investigate genetic variants of the TNF-TNFR superfamily, a total of 63 known single nucleotide polymorphisms (SNPs) in the coding region (cSNPs) of the TNF-TNFR superfamily genes were selected from the public SNP database. Among 63 cSNPs tested in this study, only 24 SNPs (38%) were validated to be polymorphic in the Korean population by primer extension-based SNP genotyping. By means of the new enhanced single strand conformational polymorphism (SSCP) method, we also identified a total of 78 SNPs, including 48 known SNPs and 30 novel SNPs, in the 44 human TNF-TNFR superfamily genes. The newly discovered SNPs in the TNF-TNFR superfamily genes revealed that the Korean population had very different patterns of allele frequency compared with African or white populations, whereas Korean allele frequencies were highly similar to those of Asian (correlation coefficient r = 0.88, p < 0.046). A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases.

Original languageEnglish
Pages (from-to)710-718
Number of pages9
JournalHuman Immunology
Issue number7
StatePublished - Jul 2004

Bibliographical note

Funding Information:
This work was supported by an intramural grant of the National Institute of Health, Korea. I.J. was supported in part by an IMT-2000 research grant (01-PJ11-PG9-01BT05-0003) from the Ministry of Health and Welfare and the Ministry of Science and Technology, Korea.


  • Korean
  • SNP
  • SSCP
  • TNF-TNFR superfamily


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