Abstract
Mannose binding lectin (MBL) deficiency may be associated with increased susceptibility to infection and autoimmune disorders, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). In the present study, we performed for the first systematic search for mutations in all the four exons of the MBL gene using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis. Of 49 healthy Japanese individuals studied, only the previously reported mutation at the codon 54 (substitution from Gly to Asp; G54D) was identified. The allele frequencies of G54D in 105 healthy Japanese individuals, 95 SLE patients and 59 RA patients, were 0.233, 0.226 and 0.178, respectively, which were not significantly different. In addition, two polymorhisms at positions of −550 and −221 in the promoter region were not associated with SLE and RA. It is unlikely that MBL deficiency plays a major role in the pathogenesis of SLE and RA in Japanese.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 6 digital issues and online access to articles
$119.00 per year
only $19.83 per issue
Rent or buy this article
Prices vary by article type
from$1.95
to$39.95
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
Author information
Authors and Affiliations
Corresponding author
Additional information
This work was supported in part by grants-in-aid from the Ministry of Education, Science, Sports, and Culture of Japan, from the Foundation for the Advancement of Clinical Medicine, and from Yokoyama Foundation for Clinical Pharmacology (to T Horiuchi).
Rights and permissions
About this article
Cite this article
Horiuchi, T., Tsukamoto, H., Morita, C. et al. Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese. Genes Immun 1, 464–466 (2000). https://doi.org/10.1038/sj.gene.6363710
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.gene.6363710
Keywords
This article is cited by
-
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing
Journal of Clinical Immunology (2021)
-
Smoking and polymorphisms of genes encoding mannose-binding lectin and surfactant protein-D in patients with rheumatoid arthritis
Rheumatology International (2014)
-
Meta-analysis of functional MBL polymorphisms
Zeitschrift für Rheumatologie (2014)
-
The association between the mannose-binding lectin codon 54 polymorphism and systemic lupus erythematosus: a meta-analysis update
Molecular Biology Reports (2012)
-
Mannan Binding Lectin (MBL) genotypes coding for high MBL serum levels are associated with rheumatoid factor negative rheumatoid arthritis in never smokers
Arthritis Research & Therapy (2011)