Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655

作者：Sondergaard Helle Bach^*; Sellebjerg Finn; Hillert Jan; Olsson Tomas; Kockum Ingrid; Linden Magdalena; Mero Inger Lise; Myhr Kjell Morten; Celius Elisabeth G; Harbo Hanne F; Christensen Jeppe Romme; Boernsen Lars; Sorensen Per Soelberg; Oturai Annette Bang

来源：European Journal of Human Genetics, 2011, 19(10): 1100-1103.

DOI：10.1038/ejhg.2011.88

• multiple sclerosis
• KLRB1
• association study
• CD161
• case-control study

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)-beta treatment. KLRB1 was expressed in T and natural killer (NK) cells, and expression mainly decreased in NK cells in patients treated with IFN-beta. 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. European Journal of Human Genetics (2011) 19, 1100-1103; doi:10.1038/ejhg.2011.88; published online 25 May 2011

• 出版日期2011-10