Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus: From Single Markers to Genome-Wide Data

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Fältnamn	Indikatorer	Metadata
000		04501nam a2200445 4500
001		oai:DiVA.org:uu-117776
003		SwePub
008		100222s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
020		a 9789155477363q print
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1177762 URI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a vet2 swepub-contenttype
072	7	a dok2 swepub-publicationtype
100	1	a Sandling, Johanna K,d 1979-u Uppsala universitet,Molekylär medicin4 aut0 (Swepub:uu)josan062
245	1 0	a Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus :b From Single Markers to Genome-Wide Data
264	1	a Uppsala :b Acta Universitatis Upsaliensis,c 2010
300		a 64 s.
338		a electronic2 rdacarrier
490	0	a Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine,x 1651-6206 ;v 528
520		a In autoimmune diseases an individual’s immune system becomes targeted at the body’s own healthy cells. The aim of this thesis was to identify genetic risk factors for the two autoimmune diseases multiple sclerosis (MS) and systemic lupus erythematosus (SLE). In Study I, we found that genetic variation in the interferon regulatory factor 5 gene (IRF5), previously shown to be associated with SLE, rheumatoid arthritis and inflammatory bowel diseases, was associated also with MS. An insertion/deletion polymorphism in the first intron of IRF5 is as a good functional candidate for this association. IRF5, together with the signal transducer and activator of transcription 4 gene (STAT4), are the most important genetic risk factors for SLE, outside the HLA region. In Study II we showed using a family-based study design that genetic variation in STAT4 is associated with SLE also in the Finnish population. In Study III, we investigated a STAT4 risk allele for SLE for its association with cardiovascular disease in SLE patients. The risk allele of STAT4 proved to be strongly associated with ischemic cerebrovascular disease and anti-phospholipid antibodies in SLE patients. A possible mechanism for this association is that the risk allele leads to increased production of pro-thrombotic anti-phospholipid antibodies, which in turn increases the risk for stroke. Both IRF5 and STAT4 are involved in signalling of the type I interferon system. In Study IV, we investigated 78 additional genes in this system for their association with SLE in a Swedish cohort. The most promising results were followed up in additional patients and controls from Sweden and the US. Two novel SLE genes were identified. In Study V a large follow-up of a genome-wide association study was performed. Five new SLE loci were identified: TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10. A number of genes previously shown to be associated with other autoimmune diseases were also tested for association with SLE. This analysis identified the type I interferon system gene IFIH1 as a novel SLE risk locus. These studies confirms the central role of the type I interferon system in SLE and further suggests common genetic risk factors in autoimmunity.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a Systemic lupus erythematosus
653		a Multiple Sclerosis
653		a Association study
653		a Type I interferon system
653		a Single nucleotide polymorphism
653		a Molecular medicine (genetics and pathology)
653		a Molekylär medicin (genetik och patologi)
653		a Molekylär medicin
653		a Molecular Medicine
700	1	a Syvänen, Ann-Christine,c professoru Uppsala universitet,Molekylär medicin4 ths
700	1	a Lovmar, Lovisa,c Dru Sahlgrenska University Hospital, Göteborg, Sweden4 ths
700	1	a Terwilliger, Joseph,c professoru University of Helsinki, Finland, and University of Columbia, NY, USA4 ths
700	1	a Martín Ibáñez, Javier,c professoru Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain4 opn
710	2	a Uppsala universitetb Molekylär medicin4 org
856	4	u https://uu.diva-portal.org/smash/get/diva2:301981/FULLTEXT01.pdfx primaryx Raw objecty fulltext
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-117776

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