Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

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Fältnamn	Indikatorer	Metadata
000		04513naa a2200709 4500
001		oai:DiVA.org:uu-11871
003		SwePub
008		071101s2007 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:1938199
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-118712 URI
024	7	a https://doi.org/10.1073/pnas.07012661042 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:19381992 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Graham, R. Robert4 aut
245	1 0	a Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
264		c 2007-04-17
264	1	b Proceedings of the National Academy of Sciences,c 2007
338		a print2 rdacarrier
520		a Systematic genome-wide studies to map genomic regions associated with human diseases are becoming more practical. Increasingly, efforts will be focused on the identification of the specific functional variants responsible for the disease. The challenges of identifying causal variants include the need for complete ascertainment of genetic variants and the need to consider the possibility of multiple causal alleles. We recently reported that risk of systemic lupus erythematosus (SLE) is strongly associated with a common SNP in IFN regulatory factor 5 (IRF5), and that this variant altered spicing in a way that might provide a functional explanation for the reproducible association to SLE risk. Here, by resequencing and genotyping in patients with SLE, we find evidence for three functional alleles of IRF5: the previously described exon 1B splice site variant, a 30-bp in-frame insertion/deletion variant of exon 6 that alters a proline-, glutamic acid-, serine- and threonine-rich domain region, and a variant in a conserved polyA+ signal sequence that alters the length of the 3' UTR and stability of IRF5 mRNAs. Haplotypes of these three variants define at least three distinct levels of risk to SLE. Understanding how combinations of variants influence IRF5 function may offer etiological and therapeutic insights in SLE; more generally, IRF5 and SLE illustrates how multiple common variants of the same gene can together influence risk of common disease.
653		a interferon pathway
653		a systemic lupus erythematosus
653		a MEDICINE
653		a MEDICIN
700	1	a Kyogoku, Chieko4 aut
700	1	a Sigurdsson, Snaevaru Uppsala universitet,Molekylär medicin4 aut
700	1	a Vlasova, Irina A.4 aut
700	1	a Davies, Leela R.L.4 aut
700	1	a Baechler, Emily C.4 aut
700	1	a Plenge, Robert M.4 aut
700	1	a Koeuth, Thearith4 aut
700	1	a Ortmann, Ward A.4 aut
700	1	a Hom, Geoffrey4 aut
700	1	a Bauer, Jason W.4 aut
700	1	a Gillett, Clarence4 aut
700	1	a Burtt, Noel4 aut
700	1	a Cunninghame Graham, Deborah S.4 aut
700	1	a Onofrio, Robert4 aut
700	1	a Petri, Michelle4 aut
700	1	a Gunnarsson, Ivau Karolinska Institutet4 aut
700	1	a Svenungsson, Elisabethu Karolinska Institutet4 aut
700	1	a Rönnblom, Larsu Uppsala universitet,Institutionen för medicinska vetenskaper,Section of Rheumatology4 aut0 (Swepub:uu)larsronn
700	1	a Nordmark, Gunnelu Uppsala universitet,Institutionen för medicinska vetenskaper,Section of Rheumatology4 aut0 (Swepub:uu)gunnnord
700	1	a Gregersen, Peter K.4 aut
700	1	a Moser, Kathy4 aut
700	1	a Gaffney, Patrick M.4 aut
700	1	a Criswell, Lindsey A.4 aut
700	1	a Vyse, Timothy J.4 aut
700	1	a Syvänen, Ann-Christineu Uppsala universitet,Molekylär medicin4 aut0 (Swepub:uu)anncsyva
700	1	a Altshuler, David M.4 aut
700	1	a Bohjanen, PR4 aut
700	1	a Daly, MJ4 aut
700	1	a Behrens, TW4 aut
710	2	a Uppsala universitetb Molekylär medicin4 org
773	0	t Proceedings of the National Academy of Sciences of the United States of Americad : Proceedings of the National Academy of Sciencesg 104:16, s. 6758-6763q 104:16<6758-6763x 0027-8424x 1091-6490
856	4	u https://www.pnas.org/content/pnas/104/16/6758.full.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-11871
856	4 8	u https://doi.org/10.1073/pnas.0701266104
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:1938199

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