title: Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.
abstract: Recent genome-wide association studies have implicated the "signal transducer and activator of transcription 3" gene (STAT3) as a putative new multiple sclerosis (MS) susceptibility locus. However, independent validation studies are sparse. Therefore, we performed a genetic association study of two STAT3 polymorphisms (rs744166 and rs2293152) in a large and independent German case-control sample of 5,904 subjects. We observed a nominally significant, albeit weak association between rs744166 and MS susceptibility (odds ratio = 1.09, P = 0.012) in our sample. This study supports the association between STAT3 and an increase in MS risk. Taking into account the functional role of STAT3, our results favour an involvement of T(h)17 lymphocytes in MS.
authors.affiliation: Department of Neurology, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.
authors.forename: Christina M
authors.initials: CM
authors.lastname: Lill
authors.forename: Brit-Maren M
authors.initials: BM
authors.lastname: Schjeide
authors.forename: Denis A
authors.initials: DA
authors.lastname: Akkad
authors.forename: Paul
authors.initials: P
authors.lastname: Blaschke
authors.forename: Alexander
authors.initials: A
authors.lastname: Winkelmann
authors.forename: Lisa-Ann
authors.initials: LA
authors.lastname: Gerdes
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
authors.forename: Felix
authors.initials: F
authors.lastname: Luessi
authors.forename: Thomas
authors.initials: T
authors.lastname: Dörner
authors.forename: Shu-Chen
authors.initials: SC
authors.lastname: Li
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steinhagen-Thiessen
authors.forename: Ulman
authors.initials: U
authors.lastname: Lindenberger
authors.forename: Andrew
authors.initials: A
authors.lastname: Chan
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Hartung
authors.forename: Orhan
authors.initials: O
authors.lastname: Aktas
authors.forename: Peter
authors.initials: P
authors.lastname: Lohse
authors.forename: Tania
authors.initials: T
authors.lastname: Kümpfel
authors.forename: Christian
authors.initials: C
authors.lastname: Kubisch
authors.forename: Joerg T
authors.initials: JT
authors.lastname: Epplen
authors.forename: Uwe K
authors.initials: UK
authors.lastname: Zettl
authors.forename: Lars
authors.initials: L
authors.lastname: Bertram
authors.forename: Frauke
authors.initials: F
authors.lastname: Zipp
mesh_terms: D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005858:Germany; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D050796:STAT3 Transcription Factor / Q000235:genetics*
chemical_list: D050796:STAT3 Transcription Factor
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