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  • Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patents
    Maver, Aleš, 1984- ...
    Sarcoidosis is a chronic inflammatory disease, characterized by granulomatous inflammation, prorninently involving the respiratory system. The etiology of this disease has not yet been elucidated and ... the contribution of genetic is not yet completely understood. We searched for novel candidate genes, utilizing a system biology approach, based on data from published transcriptional, proteornic and linkage studies of sarcoidosis. The search revealed several new potential candidate genes involved in the pathogenesis ofinflammatory lung diseases: 25-(OH)vitarnin D3-1a-hydroxylase (CYP27Bl), endothelin-l (EDNl) and glutathione S-transferase Pi (GSTPl). Variants of selected polymorphisms:-1260/ C>Ain CYP27Bl, Lysl98AsninEDNl, and Ilel05Val inGSTPl, were examined to deterrnine if they confer susceptibility to sarcoidosis, based on an analysis of 180 Slovenian patients in comparison with283 healthy controls. Polymerase chain reactions using allele-specific oligonucleotides were performed. This disease was not significantly associatedwith genotypes CC at -1260/ C>Apolymorphism in CYP27Bl (p = 0.68, odds ratio (OR) = 1.10,95% confidence interval (CI) = 0.75-1.61), GG genotype at Lys198Asn polymorphism in EDNl (P = 1.00, OR = 0.97, 95%CI = 0.65-1.44) andAA genotypes at Ile105Val polymorphism in CYP27B1, EDN1, GSTP1 polymorphisms in sarcoidosis.
    Source: Genetics and molecular research [Elektronski vir]. - ISSN 1676-5680 (Letn. 9, št. 1, 2010, str. 58-68)
    Type of material - article, component part
    Publish date - 2010
    Language - english
    COBISS.SI-ID - 26434777