Naslov
Signal transducers and activators of transcription genes (STAT genes)and Multiple sclerosis (MS).

Autori
Lavtar, Polona ; Maver, Aleš ; Rudolf, Goražd ; Starčević Čizmarević, Nada ; Živković, Maja ; Šega Jazbec, Saša ; Klemenc Ketiš, Zalika ; Kapović, Miljenko ; Dinčić, Evica ; Raičević, Ranko ; Sepčić, Juraj ; Stanković, Aleksandra ; Ristić, Smiljana ; Peterlin, Borut.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Eur J Hum Genet / - : Npg, 2013, 228-228

Skup
European Human Genetics Conference

Mjesto i datum
Pariz, Francuska, 08.06.2013. - 11.06.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
multiple sclerosis; STAT genes

Sažetak
Multiple sclerosis (MS) is a complex inflammatory disease of the central nervous system. Both environmental and genetic factors contribute to the development of the disease. We used an integratomic approach for discovery of putative regions and genes related to MS, using a comprehensive and unique set of data sources (GWAS, linkage studies, expression studies and proteomic studies). Among 381 genomic regions and 409 genes we selected STAT3 and STAT5A for association and expression studies. Objectives: The aim of study was to investigate the association and expression of STAT3 and STAT5A genes in patients with MS from the Central South East Europe. A total of 1045 Caucasian patients and 986 healthy unrelated ethnically matched controls without family history of MS, were included in the study. For gene expression in blood we analyzed 50 patients and 40 controls.Diagnosis of MS was established according to McDonald’s criteria. Altogether, 5 SNP were included in our study, 3 in STAT3 gene: rs7211777, rs963987 and rs1053005 ; and 2 in STAT5A gene: rs6503695 and rs12601982. We found a statistically significant difference in the allelic distribution of STAT5A gene (rs6503696 with P value 7, 5∙10-4), which was supported by haplotype distributions (haplotype CA P=3∙10-5). We haven‘t found any diffrences in gene expression in blood in STAT5A. We provide evidence for association between genetic variation in STAT5A gene and multiple sclerosis. Further studies are required to substantiate the significance of these genetic variations.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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