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Published on: April 1, 2019
Three TNFalpha single nucleotide polymorphisms in the Japanese population
Y Shinohara1, Y Ezura, H Iwasaki
1Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan.
This study identified three single nucleotide polymorphisms (SNPs) in the Tumor Necrosis Factor-alpha (TNFalpha) gene in the Japanese population, with one novel SNP. Allele frequencies differed significantly from other populations, highlighting ethnic variations.
Area of Science:
- Genetics
- Immunology
- Population Studies
Background:
- Tumor Necrosis Factor-alpha (TNFalpha) regulates immune responses and is linked to disease susceptibility.
- Understanding population-specific genetic variations is crucial for disease research.
Purpose of the Study:
- To characterize single nucleotide polymorphisms (SNPs) within the TNFalpha gene in the Japanese population.
- To establish accurate allele frequency data for TNFalpha SNPs in this demographic.
Main Methods:
- Direct sequencing of the entire TNFalpha gene in 48 Japanese chromosomes (24 individuals).
- Determination of allele frequencies for identified polymorphisms.
- Comparison of findings with existing population data.
Main Results:
- Three TNFalpha SNPs were identified: -308G/A, IVS1 + 125G/A, and a novel IVS3 + 104G/A.
- Significant ethnic differences in allele frequencies were observed, particularly for the -308G/A SNP compared to NCBI dbSNP data.
Conclusions:
- The identified TNFalpha polymorphisms and their frequencies provide valuable data for Japanese genetic studies.
- This information can aid in the genetic investigation of common diseases like osteoporosis and rheumatoid arthritis in Japan.
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