title: Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655.
abstract: Multiple sclerosis (MS) is a complex autoimmune disease affecting genetically susceptible individuals. A genome-wide association study performed by the International MS Genetics Consortium identified several putative susceptibility genes; among these, the KLRB1 gene is represented by the single-nucleotide polymorphism rs4763655. We could confirm a marginally significant association between rs4763655 and MS (P=0.046, odds ratio=1.06 (1.00-1.13)) in a large Scandinavian case-control study of 5367 MS patients and 4485 controls. The expression of KLRB1 in blood from MS patients was higher compared with healthy controls (P<0.001), and the KLRB1 expression decreased significantly (P<0.001) after interferon (IFN)-β treatment. KLRB1 was expressed in T and natural killer (NK) cells, and expression mainly decreased in NK cells in patients treated with IFN-β. Collectively, our results indicate that KLRB1 gene expression is altered in MS and likely to be involved in the pathogenesis of the disease, whereas rs4763655 in KLRB1 seems to have a minimal role in MS susceptibility.
authors: Department of Neurology, Danish Multiple Sclerosis Center, University Hospital Rigshospitalet, Copenhagen, Denmark. hbs@rh.dk
authors: Helle Bach
authors: HB
authors: Søndergaard
authors: Finn
authors: F
authors: Sellebjerg
authors: Jan
authors: J
authors: Hillert
authors: Tomas
authors: T
authors: Olsson
authors: Ingrid
authors: I
authors: Kockum
authors: Magdalena
authors: M
authors: Lindén
authors: Inger-Lise
authors: IL
authors: Mero
authors: Kjell-Morten
authors: KM
authors: Myhr
authors: Elisabeth G
authors: EG
authors: Celius
authors: Hanne F
authors: HF
authors: Harbo
authors: Jeppe Romme
authors: JR
authors: Christensen
authors: Lars
authors: L
authors: Börnsen
authors: Per Soelberg
authors: PS
authors: Sørensen
authors: Annette Bang
authors: AB
authors: Oturai
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