Document Detail

Mannose-binding lectin-low genotypes are associated with milder systemic and immunological disease expression in primary Sjögren's syndrome.
MedLine Citation:
PMID:  19056797     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To investigate the association of mannose-binding lectin (MBL)-low genotypes with the clinical and immunological expression of primary SS. METHODS: Eighty-one patients with primary SS who fulfilled the 2002 classification criteria were included in the study. MBL2 polymorphisms were investigated by sequence-based DNA typing of the promoter and exon 1. Genotypes 0/0, 0/XA or XA/XA were considered as MBL-low and XA/A, A/0 and A/A as MBL-sufficient. Control groups included 46 patients who exclusively fulfilled the 1993 SS criteria, 114 SLE patients and 104 healthy individuals. RESULTS: Twelve (15%) SS patients had MBL-low genotypes, of whom six (7%) had genotype 0/XA, five (6%) had genotype 0/0 and one (1%) had genotype XA/XA. A higher prevalence of the XA/A genotype (32 vs 17%, P = 0.01) was found in primary SS patients in comparison with SLE patients. No patient with primary SS carrying MBL-low genotypes had purpura, glomerulonephritis or neurological involvement (0 vs 29%, P = 0.025). Immunologically, patients carrying MBL-low genotypes had a lower frequency of anti-Ro/SS-A antibodies (17 vs 55%, P = 0.014), anti-La/SS-B antibodies (8 vs 48%, P = 0.009) and low C4/C3 levels (0 vs 32%, P = 0.016). No patient with primary SS carrying the homozygous MBL-deficient genotype 0/0 had anti-Ro/SS-A or anti-La/SS-B antibodies, low C3/C4 levels or circulating cryoglobulins. CONCLUSION: SS patients with MBL-low genotypes have a less pronounced systemic and immunological disease expression in comparison with those carrying MBL-sufficient genotypes. In primary SS, MBL deficiency may represent a protective factor against the development of more aggressive autoimmune damage.
M Ramos-Casals; P Brito-Zerón; N Soria; N Nardi; A Vargas; S Muñoz; A Bové; B Suárez; F Lozano
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Rheumatology (Oxford, England)     Volume:  48     ISSN:  1462-0332     ISO Abbreviation:  Rheumatology (Oxford)     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2008-12-05     Completed Date:  2009-02-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100883501     Medline TA:  Rheumatology (Oxford)     Country:  England    
Other Details:
Languages:  eng     Pagination:  65-9     Citation Subset:  AIM; IM    
Department of Autoimmune Diseases, Laboratory of Autoimmune Diseases Josep Font, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
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MeSH Terms
Autoantibodies / blood
Autoantigens / immunology
Biological Markers / blood
Genetic Predisposition to Disease
Immunity, Innate
Mannose-Binding Lectin / genetics*
Mannose-Binding Protein-Associated Serine Proteases / genetics
Middle Aged
Polymorphism, Genetic
RNA, Small Cytoplasmic / immunology
Retrospective Studies
Ribonucleoproteins / immunology
Sjogren's Syndrome / genetics*,  immunology
Reg. No./Substance:
0/Autoantibodies; 0/Autoantigens; 0/Biological Markers; 0/MBL2 protein, human; 0/Mannose-Binding Lectin; 0/RNA, Small Cytoplasmic; 0/Ribonucleoproteins; 0/TROVE2 protein, human; EC 3.4.21.-/MASP2 protein, human; EC 3.4.21.-/Mannose-Binding Protein-Associated Serine Proteases

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