Mannan-binding lectin and complement C4A in Icelandic multicase families with systemic lupus erythematosus

2.50
Hdl Handle:
http://hdl.handle.net/2336/6260
Title:
Mannan-binding lectin and complement C4A in Icelandic multicase families with systemic lupus erythematosus
Authors:
Saevarsdottir, S; Kristjansdottir, H; Grondal, G; Vikingsdottir, T; Steinsson, K; Valdimarsson, H
Citation:
Ann. Rheum. Dis. 2006, 65(11):1462-7
Issue Date:
1-Nov-2006
Abstract:
OBJECTIVE: To determine whether low mannan-binding lectin (MBL) and C4A null alleles (C4AQ0) are associated with systemic lupus erythematosus (SLE) in multicase families with SLE. METHODS: Low MBL level was determined by measuring serum levels and by genotyping for mutant structural (B/C/D, designated as 0) and promoter (LX) alleles (by real-time polymerase chain reaction). C4AQ0 was detected by protein electrophoresis and corroborated with haplotype and genotype analysis. In nine Icelandic families, 24 patients with SLE were compared with 83 first-degree and 23 second-degree relatives without SLE. Twenty four unrelated family members and a population group of 330 Icelanders served as controls. RESULTS: Overall, the frequency of low MBL genotypes (0/0, LX/0 and wild-type/0) tended to be higher in patients with SLE than in their first-degree and second-degree relatives (p = 0.06), but the frequency was similar in the families and in the controls (p = 0.6). The frequency of C4AQ0 was, however, increased in patients and their relatives compared with that in the controls (p = 0.04). The combination of low MBL genotypes and C4AQ0 was found more often in the patients than in their relatives (p = 0.03) and controls (p = 0.02). However, low MBL level was observed only in patients and first-degree relatives in five of the nine multicase families. In these five families, patients with SLE had low MBL genotypes more often (64%) than their first-degree (38%) and second-degree (0%) relatives (p = 0.001), and the patients with SLE also had, accordingly, lower MBL levels than their relatives (p = 0.001). CONCLUSIONS: These findings indicate that low MBL levels can predispose people to SLE and highlight the genetic heterogeneity of this disease.
Description:
To access Publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://ard.bmj.com/cgi/content/full/65/11/1462

Full metadata record

DC FieldValue Language
dc.contributor.authorSaevarsdottir, S-
dc.contributor.authorKristjansdottir, H-
dc.contributor.authorGrondal, G-
dc.contributor.authorVikingsdottir, T-
dc.contributor.authorSteinsson, K-
dc.contributor.authorValdimarsson, H-
dc.date.accessioned2006-11-29T11:32:57Z-
dc.date.available2006-11-29T11:32:57Z-
dc.date.issued2006-11-01-
dc.date.submitted2006-11-29-
dc.identifier.citationAnn. Rheum. Dis. 2006, 65(11):1462-7en
dc.identifier.issn0003-4967-
dc.identifier.pmid16439442-
dc.identifier.doi10.1136/ard.2005.046086-
dc.identifier.otherAAI12-
dc.identifier.urihttp://hdl.handle.net/2336/6260-
dc.descriptionTo access Publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractOBJECTIVE: To determine whether low mannan-binding lectin (MBL) and C4A null alleles (C4AQ0) are associated with systemic lupus erythematosus (SLE) in multicase families with SLE. METHODS: Low MBL level was determined by measuring serum levels and by genotyping for mutant structural (B/C/D, designated as 0) and promoter (LX) alleles (by real-time polymerase chain reaction). C4AQ0 was detected by protein electrophoresis and corroborated with haplotype and genotype analysis. In nine Icelandic families, 24 patients with SLE were compared with 83 first-degree and 23 second-degree relatives without SLE. Twenty four unrelated family members and a population group of 330 Icelanders served as controls. RESULTS: Overall, the frequency of low MBL genotypes (0/0, LX/0 and wild-type/0) tended to be higher in patients with SLE than in their first-degree and second-degree relatives (p = 0.06), but the frequency was similar in the families and in the controls (p = 0.6). The frequency of C4AQ0 was, however, increased in patients and their relatives compared with that in the controls (p = 0.04). The combination of low MBL genotypes and C4AQ0 was found more often in the patients than in their relatives (p = 0.03) and controls (p = 0.02). However, low MBL level was observed only in patients and first-degree relatives in five of the nine multicase families. In these five families, patients with SLE had low MBL genotypes more often (64%) than their first-degree (38%) and second-degree (0%) relatives (p = 0.001), and the patients with SLE also had, accordingly, lower MBL levels than their relatives (p = 0.001). CONCLUSIONS: These findings indicate that low MBL levels can predispose people to SLE and highlight the genetic heterogeneity of this disease.en
dc.language.isoenen
dc.publisherBmj Publishing Groupen
dc.relation.urlhttp://ard.bmj.com/cgi/content/full/65/11/1462en
dc.subject.meshAdulten
dc.subject.meshComplement C4aen
dc.subject.meshFemaleen
dc.subject.meshGene Frequencyen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshGenotypeen
dc.subject.meshHumansen
dc.subject.meshLupus Erythematosus, Systemicen
dc.subject.meshMaleen
dc.subject.meshMannose-Binding Lectinen
dc.subject.meshMiddle Ageden
dc.subject.meshResearch Support, Non-U.S. Gov'ten
dc.titleMannan-binding lectin and complement C4A in Icelandic multicase families with systemic lupus erythematosusen
dc.typeArticleen
dc.format.digYES-
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