Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population

Several single-nucleotide polymorphisms have been identified in the human TNF gene promoter. The polymorphism at position _308 (TNF-308), which involves substituting G for A and designing the TNF2 allele, leads to a higher rate of TNF gene transcription than the wild-type TNF1 allele in in vitro exp...

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Main Authors: JIMENA CUENCA, CLAUDIO A. PÉREZ, ADAM J. AGUIRRE, IRENE SCHIATTINO, J. CARLOS AGUILLÓN
Format: Article
Language:English
Published: BMC 2001-01-01
Series:Biological Research
Online Access:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000300011
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author JIMENA CUENCA
CLAUDIO A. PÉREZ
ADAM J. AGUIRRE
IRENE SCHIATTINO
J. CARLOS AGUILLÓN
author_facet JIMENA CUENCA
CLAUDIO A. PÉREZ
ADAM J. AGUIRRE
IRENE SCHIATTINO
J. CARLOS AGUILLÓN
author_sort JIMENA CUENCA
collection DOAJ
description Several single-nucleotide polymorphisms have been identified in the human TNF gene promoter. The polymorphism at position _308 (TNF-308), which involves substituting G for A and designing the TNF2 allele, leads to a higher rate of TNF gene transcription than the wild-type TNF1 allele in in vitro expression studies. It has also been linked to increased susceptibility to a variety of illnesses. Using PCR-RFLP analysis we detected significant differences in the TNF-308 genotypes of Chilean and other populations. We conclude that there is a gradient in the distribution of the TNF2 allele according to ethnicity; we have also hypothesized that populations bearing a higher proportion of the TNF2 allele may have an increased predisposition toward or incidence of several chronic metabolic, degenerative, inflammatory and autoimmune diseases.
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spelling doaj.art-41c5b6147c0c4465be2bdf46749df5bc2022-12-22T01:12:33ZengBMCBiological Research0716-97600717-62872001-01-01343-4237241Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean populationJIMENA CUENCACLAUDIO A. PÉREZADAM J. AGUIRREIRENE SCHIATTINOJ. CARLOS AGUILLÓNSeveral single-nucleotide polymorphisms have been identified in the human TNF gene promoter. The polymorphism at position _308 (TNF-308), which involves substituting G for A and designing the TNF2 allele, leads to a higher rate of TNF gene transcription than the wild-type TNF1 allele in in vitro expression studies. It has also been linked to increased susceptibility to a variety of illnesses. Using PCR-RFLP analysis we detected significant differences in the TNF-308 genotypes of Chilean and other populations. We conclude that there is a gradient in the distribution of the TNF2 allele according to ethnicity; we have also hypothesized that populations bearing a higher proportion of the TNF2 allele may have an increased predisposition toward or incidence of several chronic metabolic, degenerative, inflammatory and autoimmune diseases.http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000300011
spellingShingle JIMENA CUENCA
CLAUDIO A. PÉREZ
ADAM J. AGUIRRE
IRENE SCHIATTINO
J. CARLOS AGUILLÓN
Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population
Biological Research
title Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population
title_full Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population
title_fullStr Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population
title_full_unstemmed Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population
title_short Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population
title_sort genetic polymorphism at position 308 in the promoter region of the tumor necrosis factor tnf implications of its allelic distribution on susceptibility or resistance to diseases in the chilean population
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000300011
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