Author/Editor		Maver, A; Medica, I; Salobir, B; Terčelj, M; Peterlin, B
Title		Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patents
Type		članek
Source		Genetic and Molecular Research
Vol. and No.		Letnik 9, št. 1
Publication year		2010
Volume		str. 58-68
Language		eng
Abstract		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 of inflammatory 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 in GSTPl, were examined to deterrnine if they confer susceptibility to sarcoidosis, based on an analysis of 180 Slovenian patients in comparison with 283 healthy controls. Polymerase chain reactions using allele-specific oligonucleotides were performed. This disease was not significantly associated with 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) and AA genotypes at Ile105Val polymorphism in CYP27B1, EDN1, GSTP1 polymorphisms in sarcoidosis.
Descriptors		SARCOIDOSIS POLYMORPHISM (GENETICS) POLYMERASE CHAIN REACTION OLIGONUCLEOTIDE PROBES GENOTYPE ODDS RATIO SLOVENIA