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PMID: 9820599 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor-alpha gene promoter.

Tissue antigens ·Vol. 52 ·No. 4 ·1998-10-00 ·Pages 359-67

Uglialoro AM, Turbay D, Pesavento PA, Delgado JC, McKenzie FE, Gribben JG, Hartl D, Yunis EJ, Goldfeld AE

Abstract

We have identified three new human tumor necrosis factor-alpha (TNF-alpha) promoter polymorphisms with single nucleotide (nt) substitutions at -862, -856, and -574 nt relative to the TNF-alpha transcription start site. The -862 and -856 nt TNF-alpha promoter polymorphisms occur with high frequency in Caucasian and Cambodian individuals and are each non-randomly associated with three extended HLA haplotypes. This study, in which 61 independent TNF-alpha promoters were analyzed spanning from -977 to +93 nt relative to the TNF-alpha mRNA cap site, establishes a new canonical TNF-alpha 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-alpha gene expression in activated lymphocytes. Thus, these TNF-alpha promoter polymorphisms likely serve as markers for neighboring genes encoding HLA or other undefined molecules in the MHC that may influence disease susceptibility.

MeSH Terms
Animals Base Sequence Cambodia Cell Line Genetic Predisposition to Disease/genetics Haplotypes Humans Linkage Disequilibrium Major Histocompatibility Complex/genetics Mice Molecular Sequence Data Polymorphism, Genetic Promoter Regions, Genetic Tumor Cells, Cultured Tumor Necrosis Factor-alpha/genetics Whites/genetics
Chemicals
Tumor Necrosis Factor-alpha
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Uglialoro A M
Department of Medicine, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts, USA.
Turbay D
Pesavento P A
Delgado J C
McKenzie F E
Gribben J G
Hartl D
Yunis E J
Goldfeld A E
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Article Info
Journal
Tissue antigens
Abbr.
Tissue Antigens
ISSN
0001-2815
DOI
10.1111/j.1399-0039.1998.tb03056.x
Published
1998-10-00
Pages
359-67
Language
English
Region
England
NLM ID
0331072
PMCID
PMC2518982
Subset
IM
Grants
NHLBI NIH HHS · R01 HL059838 · United States
NHLBI NIH HHS · P01 HL029583 · United States
NHLBI NIH HHS · HL59838 · United States
NHLBI NIH HHS · HL29583 · United States
NCI NIH HHS · CA58735 · United States
Intramural NIH HHS · Z99 TW999999 · United States
External Links
PubMed source DOI: 10.1111/j.1399-0039.1998.tb03056.x PMC Full Text View journal details
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