title: Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients.
abstract: This study describes the importance of mannose-binding lectin (MBL) variant alleles for systemic lupus erythematosus (SLE) and accompanying infections in a population-based cohort. MBL alleles were determined in 99 SLE patients recruited from a representative Danish region. Patients were classified according to the 1982 revised ACR criteria as definite SLE (D-SLE) (n = 77) fulfilling > or =4 criteria and incomplete SLE (I-SLE) (n = 22) with 0.99, respectively). A meta-analysis of eight previously published studies suggested that the presence of MBL variant alleles confer a 1.6 times overall increased risk for D-SLE (P < 0.00001). MBL variant allele carriers had higher disease activity (SLEDAI-index) in a 2-year follow-up period (P = 0.02) and had an increased risk of acquiring complicating infections in general (P = 0.03) and respiratory infections in particular (P = 0.0006). Only in SLE patients fulfilling > or =4 ACR criteria an increased frequency of MBL variant alleles was found. MBL variant alleles were also associated with increased risk of disease activity and of complicating infections indicating that the MBL gene is an SLE disease modifier locus.
authors.affiliation: Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, Copenhagen, Denmark. Garred@post5.tele.dk
authors.forename: P
authors.initials: P
authors.lastname: Garred
authors.forename: A
authors.initials: A
authors.lastname: Voss
authors.forename: H O
authors.initials: HO
authors.lastname: Madsen
authors.forename: P
authors.initials: P
authors.lastname: Junker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics*; D015331:Cohort Studies; D037222:Collectins; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007239:Infections / Q000209:etiology*; D037102:Lectins; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008358:Mannose; D008875:Middle Aged; D011401:Promoter Regions, Genetic
chemical_list: D002352:Carrier Proteins; D037222:Collectins; D037102:Lectins; D008358:Mannose