2.50
Hdl Handle:
http://hdl.handle.net/2336/21892
Title:
Characterization of a susceptibility locus for SLE, SLEB5, on chromosome 4p14-13.
Authors:
Johansson, C M; Kristjánsdottir, H; Gröndal, G; Steinsson, K; Alarcón-Riquelme, M E
Citation:
Scand. J. Immunol. 2006, 64(3):308-13
Issue Date:
1-Sep-2006
Abstract:
Systemic lupus erythematosus is a systemic autoimmune disorder of unknown aetiology but is most likely caused by an interaction between several genetic factors and the environment. In a previously published genome scan we presented linkage to a marker on chromosome 4p13 in Icelandic families. Fine mapping of the region has been performed using 10 multicase families from Iceland and the maximum two-point LOD score was given by marker D4S2974 (Z = 3.57, alpha = 1). Multipoint analyses of the markers in the region suggest a putative disease gene to be located between markers D4S405 and D4S2381. The maximum multipoint LOD score (Z = 3.76) was given for marker D4S2974 in combination with the novel repeat GT4C2. A family-specific haplotype was segregating with the disease in each of eight families although a founder haplotype could not be identified. Analysis of recombination events in the patients delimited the susceptibility locus to approximately 3 cM. The susceptibility locus identified probably contains a mutation that has been enriched in the Icelandic population but is less common in other populations. We also show that this region is not identical to a susceptibility locus for SLE located on 4p16 where we detect no linkage.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.blackwell-synergy.com/doi/abs/10.1111/j.1365-3083.2006.01810.x

Full metadata record

DC FieldValue Language
dc.contributor.authorJohansson, C M-
dc.contributor.authorKristjánsdottir, H-
dc.contributor.authorGröndal, G-
dc.contributor.authorSteinsson, K-
dc.contributor.authorAlarcón-Riquelme, M E-
dc.date.accessioned2008-03-28T15:44:49Z-
dc.date.available2008-03-28T15:44:49Z-
dc.date.issued2006-09-01-
dc.date.submitted2008-03-28-
dc.identifier.citationScand. J. Immunol. 2006, 64(3):308-13en
dc.identifier.issn0300-9475-
dc.identifier.pmid16918700-
dc.identifier.doi10.1111/j.1365-3083.2006.01810.x-
dc.identifier.urihttp://hdl.handle.net/2336/21892-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractSystemic lupus erythematosus is a systemic autoimmune disorder of unknown aetiology but is most likely caused by an interaction between several genetic factors and the environment. In a previously published genome scan we presented linkage to a marker on chromosome 4p13 in Icelandic families. Fine mapping of the region has been performed using 10 multicase families from Iceland and the maximum two-point LOD score was given by marker D4S2974 (Z = 3.57, alpha = 1). Multipoint analyses of the markers in the region suggest a putative disease gene to be located between markers D4S405 and D4S2381. The maximum multipoint LOD score (Z = 3.76) was given for marker D4S2974 in combination with the novel repeat GT4C2. A family-specific haplotype was segregating with the disease in each of eight families although a founder haplotype could not be identified. Analysis of recombination events in the patients delimited the susceptibility locus to approximately 3 cM. The susceptibility locus identified probably contains a mutation that has been enriched in the Icelandic population but is less common in other populations. We also show that this region is not identical to a susceptibility locus for SLE located on 4p16 where we detect no linkage.en
dc.language.isoenen
dc.relation.urlhttp://www.blackwell-synergy.com/doi/abs/10.1111/j.1365-3083.2006.01810.xen
dc.subject.meshChromosomes, Human, Pair 4en
dc.subject.meshFemaleen
dc.subject.meshGenetic Markersen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHaplotypesen
dc.subject.meshLinkage (Genetics)en
dc.subject.meshLod Scoreen
dc.subject.meshLupus Erythematosus, Systemicen
dc.subject.meshMaleen
dc.subject.meshMicrosatellite Repeatsen
dc.subject.meshPedigreeen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.titleCharacterization of a susceptibility locus for SLE, SLEB5, on chromosome 4p14-13.en
dc.typeArticleen
dc.identifier.journalScandinavian journal of immunologyen

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