Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor‐α gene promoter
- 1 October 1998
- journal article
- Published by Wiley in Tissue Antigens
- Vol. 52 (4) , 359-367
- https://doi.org/10.1111/j.1399-0039.1998.tb03056.x
Abstract
We have identified three new human tumor necrosis factor‐α (TNF‐α) promoter polymorphisms with single nucleotide (nt) substitutions at ‐862, ‐856, and ‐574 nt relative to the TNF‐α transcription start site. The ‐862 and ‐856 nt TNF‐α promoter polymorphisms occur with high frequency in Caucasian and Cambodian individuals and are each non‐ran‐domly associated with three extended HLA haplotypes. This study, in which 61 independent TNF‐α promoters were analyzed spanning from ‐977 to +93 nt relative to the TNF‐α mRNA cap site, establishes a new canonical TNF‐α promoter sequence. Furthermore, we show that none of the three novel polymorphisms at ‐862, ‐856 and ‐574 nt or polymorphisms previously described at positions ‐238, ‐308 and +70 have an effect upon TNF‐α gene expression in activated lymphocytes. Thus, these TNF‐α promoter polymorphisms likely serve as markers for neighboring genes encoding HLA or other undefined molecules in the MHC that may influence disease susceptibility.Keywords
This publication has 36 references indexed in Scilit:
- Tumor Necrosis Pactor (TNF) microsatellite haplotypes in relation to extended haplotypes, susceptibility to diseases associated with the major histocompatibility complex and TNF secretionHuman Immunology, 1996
- Genetic Variability in the TNF-α Promoter Is Not Associated with Type II Diabetes Mellitus (NIDDM)Biochemical and Biophysical Research Communications, 1995
- Tumor necrosis factor-α is required in the protective immune response against mycobacterium tuberculosis in miceImmunity, 1995
- Tumor necrosis factor α-308 gene variants in relation to major histocompatibility complex alleles and Felty's syndromeHuman Immunology, 1994
- Identification of a novel cyclosporin-sensitive element in the human tumor necrosis factor alpha gene promoter.The Journal of Experimental Medicine, 1993
- Highly Informative Typing of the Human TNF Locus Using Six Adjacent Polymorphic MarkersGenomics, 1993
- An allelic polymorphism within the human tumor necrosis factor alpha promoter region is strongly associated with HLA A1, B8, and DR3 alleles.The Journal of Experimental Medicine, 1993
- HLA‐DQB1 allele typing by a new PCR‐RFLP method: Correlation with a PCR‐SSO methodTissue Antigens, 1992
- Single base polymorphism in the human Tumour Necrosis Factor alpha (TNFα) gene detectable by Ncol restriction of PCR productHuman Molecular Genetics, 1992
- EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA: SHARED GENOTYPES IN UNRELATED PATIENTSThe Lancet, 1983