TNF-alpha and TNF-beta gene polymorphisms in systemic sclerosis

Citation
Jp. Pandey et F. Takeuchi, TNF-alpha and TNF-beta gene polymorphisms in systemic sclerosis, HUMAN IMMUN, 60(11), 1999, pp. 1128-1130
Citations number
19
Categorie Soggetti
Immunology
Journal title
HUMAN IMMUNOLOGY
ISSN journal
01988859 → ACNP
Volume
60
Issue
11
Year of publication
1999
Pages
1128 - 1130
Database
ISI
SICI code
0198-8859(199911)60:11<1128:TATGPI>2.0.ZU;2-I
Abstract
Tumor necrosis Factor (TNF)-alpha and TNF-beta mediators of inflammatory re sponses, have been implicated in the pathogenesis of autoimmune diseases. T he aim of this investigation was to determine whether two promoter region p olymorphisms of the TNF-alpha gene TNF-alpha(-308) and (TNF-238) and a dete rminant in the first intron of the TNF-beta gene (TNF-beta(+252)) affect su sceptibility to systemic sclerosis (scleroderma) (SSc). Fifty patients and 60 healthy blood donors from Japan were genotyped for these markers by poly merase chain reaction-based methods. Fisher's exact test was used to rest f or significant associations. Because of very limited variation ac the TNF-a lpha(-308) and TNF-alpha(-238) loci in the Japanese people, statistical ana lyses with sufficient power could net be done for these genotypes. However, the two homozygous genotypes of the TNF-beta(+252) locus were found to be significantly associated with SSc. Compared to controls, the frequency of t he TNF-1 genotype was decreased, whereas that of TNF-2 was increased in SSc patients. The farmer implies an association with resistance, while the lat ter suggests an association with susceptibility to the disease. These resul ts show that the TNF-beta(+252) locus plays an important role in the etiopa thogenesis of SSc. (C) American Society for Histocompatability and Immunoge netics, 1999. Published by Elsevier Science Inc.