title: Mannose binding lectin gene polymorphism in patients with type I diabetes.
abstract: Our purpose was to investigate a possible relationship between occurrence of type I diabetes and polymorphism of the mannose binding lectin gene. Polymorphism of codon 54 of the mannose binding lectin (MBL) gene, whose presence of the minority allele leads to significant reduction of serum MBL concentration, was investigated in 128 Japanese patients with type I diabetes and 78 healthy volunteers by restriction fragment length polymorphism method. Frequencies of the minority allele were compared between the patient group and the control group. Frequency of the minority allele was 24.2% in the patient group and 19.9% in the control group. The probability of being heterozygous or homozygous for the minority allele was 41.4% in the patient group and 33.3% in the control group. Patients with DRB1*0405-DQB1*0401 and/or DRB1*0901-DQB1*0303 haplotypes, the two major type I diabetes-prone human leukocyte antigen haplotypes, showed a slightly higher probability of being heterozygous or homozygous for allele B of the MBL gene. Possession of the minority allele of the MBL gene may be a minor risk factor for having type I diabetes.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Japan. atsutsum@md.tsukuba.ac.jp
authors.forename: Akito
authors.initials: A
authors.lastname: Tsutsumi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ikegami
authors.forename: Reiko
authors.initials: R
authors.lastname: Takahashi
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Murata
authors.forename: Daisuke
authors.initials: D
authors.lastname: Goto
authors.forename: Isao
authors.initials: I
authors.lastname: Matsumoto
authors.forename: Tomomi
authors.initials: T
authors.lastname: Fujisawa
authors.forename: Takayuki
authors.initials: T
authors.lastname: Sumida
mesh_terms: D017668:Age of Onset; D000483:Alleles; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D037601:Mannose-Binding Lectin / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D037601:Mannose-Binding Lectin