title: Functional analysis of a new polymorphism in the human TNF alpha gene promoter.
abstract: In this paper the functional relevance of a TNFA promoter polymorphism, a G/A polymorphic sequence at position -238, was tested by analysing its influence on TNF alpha production upon in vitro stimulation of monocytes from 78 healthy, unrelated individuals by lipopolysaccharide (LPS) or after allogenic stimulation in a panel of 32 healthy individuals. All TNFA-A positive individuals were either DR3 or DR7 positive, confirming the previously reported strong linkage disequilibrium of the TNFA-A allele with the two extended haplotypes (B18, F1C30, DR3) and (B57, SC61, DR7). No individuals homozygous for the TNFA-A allele were present in the panel. The mean level of TNF alpha production was not significantly different in TNFA-G/G homozygous and in TNFA-A/G heterozygous individuals after LPS stimulation of monocytes (P = 0.35) or after allogenic stimulation (P = 0.7). After LPS and allogenic stimulation DR3 positive individuals had a higher mean TNF production. This could not be further differentiated by typing for TNF -283.
authors.affiliation: Steno Diabetes Center, Gentofte, Denmark.
authors.forename: F
authors.initials: F
authors.lastname: Pociot
authors.forename: S
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: S
authors.initials: S
authors.lastname: Compasso
authors.forename: R
authors.initials: R
authors.lastname: Scorza
authors.forename: P M
authors.initials: PM
authors.lastname: Richiardi
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha