title: TNFα gene polymorphisms in the pathogenesis of acne vulgaris.
abstract: Inflammation plays an important role in acne pathogenesis, and pro-inflammatory cytokines are key factors in these events. Tumor necrosis factor alpha (TNFα) is a central molecule coded by a gene that shows high level of genetic polymorphisms especially in its promoter region. Single nucleotide polymorphisms (SNPs) of the TNFα gene have been shown to be associated with an increased risk to develop chronic inflammatory diseases. In order to find out if known TNFα regulatory SNPs (-1031T>C, -857C>T, -863C>A, -308G>A, -238G>A) have a role in the development of the inflammatory reactions in acne vulgaris, we analyzed our genomic collection in a retrospective case-control study using the PCR-RFLP method, and we compared the resulting genotype and allele frequencies. There were no significant differences in the observed genotype or allele frequencies between the control and acne group in case of the -1031, -863, -238 SNPs; however, the TNFα -857 minor T allele was found to act as a protective factor in our study population in acne, and a higher occurrence of the minor -308 A allele in female acne patients was also noted. Genetic variants of the TNFα gene may affect the risk of acne vulgaris. Our results can help to elucidate the molecular events leading to acne development.
authors.affiliation: Dermatological Research Group of the Hungarian Academy of Sciences, Szeged, Hungary. szabok@mail.derma.szote.u-szeged.hu
authors.forename: Kornélia
authors.initials: K
authors.lastname: Szabó
authors.forename: Gábor
authors.initials: G
authors.lastname: Tax
authors.forename: Dragos
authors.initials: D
authors.lastname: Teodorescu-Brinzeu
authors.forename: Andrea
authors.initials: A
authors.lastname: Koreck
authors.forename: Lajos
authors.initials: L
authors.lastname: Kemény
mesh_terms: D000152:Acne Vulgaris / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000276:immunology; D008297:Male; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics* / Q000276:immunology
chemical_list: D014409:Tumor Necrosis Factor-alpha