Related Experiment Videos
Mannose binding lectin gene polymorphism in patients with type I diabetes
Akito Tsutsumi1, Hiroshi Ikegami, Reiko Takahashi
1Division of Rheumatology, Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Japan. atsutsum@md.tsukuba.ac.jp
Human Immunology
|May 29, 2003
Summary
A specific gene variation in mannose binding lectin (MBL) may slightly increase type 1 diabetes risk. This study found a higher frequency of a particular MBL gene allele in Japanese patients with type 1 diabetes.
Area of Science:
- Immunogenetics
- Endocrinology
- Molecular Biology
Background:
- Type 1 diabetes is an autoimmune disease with complex genetic factors.
- Mannose-binding lectin (MBL) plays a role in innate immunity and its gene (MBL) exhibits polymorphism.
- Specific MBL gene polymorphisms can affect MBL serum concentrations and immune function.
Purpose of the Study:
- To investigate the association between type 1 diabetes and polymorphism in the mannose binding lectin (MBL) gene.
- To determine if MBL gene variations influence susceptibility to type 1 diabetes in a Japanese population.
Main Methods:
- Restriction fragment length polymorphism (RFLP) method was used to analyze MBL gene polymorphism at codon 54.
- Genotyping was performed on 128 Japanese patients with type 1 diabetes and 78 healthy Japanese volunteers.
- Allele frequencies and genotype probabilities were compared between patient and control groups.
Main Results:
- The frequency of the minority allele of the MBL gene was higher in type 1 diabetes patients (24.2%) compared to healthy controls (19.9%).
- The probability of being heterozygous or homozygous for the minority allele was elevated in patients (41.4%) versus controls (33.3%).
- Patients with specific human leukocyte antigen (HLA) haplotypes (DRB1*0405-DQB1*0401 and/or DRB1*0901-DQB1*0303) showed a slightly increased probability of carrying the MBL minority allele.
Conclusions:
- The minority allele of the MBL gene may represent a minor genetic risk factor for type 1 diabetes.
- Further research is warranted to elucidate the precise role of MBL gene variations in type 1 diabetes pathogenesis.