title: Genetic variants of interferon-gamma and its mRNA expression and inflammatory parameters in the pathogenesis of vitiligo.
abstract: Although genetics plays an essential role in the pathogenesis of vitiligo, vitiligo pathogenesis is still unclear. Our aim was to investigate the role of IFN-γ expression and polymorphism in vitiligo susceptibility and whether intercellular adhesion molecule-1 (ICAM-1), tumor necrosis factor (TNF)-α, and TNF-β play a role in vitiligo pathogenesis as important inflammatory parameters. Eighty-five patients with vitiligo and 90 controls were investigated for IFN-γ gene expression by quantitative real-time PCR and genotyped for IFN-γ +874T/A (rs2430561) and IFN-γ +2109A/G (rs1861494) gene polymorphisms by sequence-specific primer (SSP)-PCR and PCR-restriction fragment length polymorphism (RFLP), respectively. Serum levels of inflammatory parameters were measured using ELISA. Frequencies of the +874 TT genotype and T allele were significantly higher in patients with active vitiligo than in stable patients (P = 0.01 and 0.03, respectively). Calculation of odds ratio suggested a 1.7-fold increased risk of vitiligo in individuals having the TA haplotype. We observed overexpression of IFN-γ mRNA with elevated serum levels of IFN-γ, ICAM-1, TNF-α, and TNF-β in patients with vitiligo when compared with the control group (P = 0.001, for all). In addition, these levels were elevated in patients with active vitiligo compared with stable patients with vitiligo (P = 0.008, 0.006, 0.01, 0.01, and 0.03, respectively), which suggests the involvement of these cytokines in disease activity. In conclusion, IFN-γ is a promising immunological marker in vitiligo pathogenesis.
authors.affiliation: a Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Rehab A
authors.initials: RA
authors.lastname: Karam
authors.affiliation: a Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Haidy E
authors.initials: HE
authors.lastname: Zidan
authors.affiliation: b Dermatology Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Mohamed H
authors.initials: MH
authors.lastname: Khater
mesh_terms: D020869:Gene Expression Profiling; D014644:Genetic Variation / Q000235:genetics*; D064368:Healthy Volunteers; D006801:Humans; D007249:Inflammation / Q000235:genetics* / Q000473:pathology; D007371:Interferon-gamma / Q000097:blood / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D014820:Vitiligo / Q000235:genetics* / Q000473:pathology*
chemical_list: D012333:RNA, Messenger; D007371:Interferon-gamma
keywords: ICAM-1; IFN-γ expression; TNF-α; TNF-β; expression d’IFN-γ; vitiligo