title: Mannose-binding lectin gene: polymorphisms in Japanese patients with systemic lupus erythematosus, rheumatoid arthritis and Sjögren's syndrome.
abstract: Mannose-binding lectin (MBL) is a key element of the innate immunity, with a structure similar to complement C1q. Serum MBL levels are greatly affected by the polymorphisms of the MBL gene. In particular, codon 54 mutation of the MBL gene results in a significant reduction of serum MBL. To determine whether polymorphism of the MBL gene is associated with occurrence of systemic lupus erythematosus (SLE), rheumatoid arthritis and Sjögren's syndrome in the Japanese population, we analyzed the MBL gene polymophisms of these patients and controls, by polymerase chain reaction-restriction fragment length polymorphism methods. We found that patients studied had a significantly higher frequency of having homozygous codon 54 mutation compared to controls. In particular, patients with SLE or Sjögren's syndrome showed higher probabilities of being homozygous for this mutation. Among subjects with the same genotype, SLE patients tended to have higher serum MBL concentration than controls. Analysis of the promotor region suggested that SLE patients heterozygous for the codon 54 mutation have a higher probability of having a low producing haplotype for the gene without the codon 54 mutation. We conclude that persons homozygous for codon 54 mutation of the MBL gene may be prone to occurrence of autoimmune disorders including SLE, in the Japanese. MBL may have protective effects on occurrence and progression of SLE.
authors.affiliation: Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba, Tennodai, Japan. atsutsum@md.tsukuba.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Tsutsumi
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: N
authors.initials: N
authors.lastname: Wakamiya
authors.forename: K
authors.initials: K
authors.lastname: Ichikawa
authors.forename: T
authors.initials: T
authors.lastname: Atsumi
authors.forename: K
authors.initials: K
authors.lastname: Ohtani
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Koike
authors.forename: T
authors.initials: T
authors.lastname: Sumida
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics*; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics* / Q000276:immunology; D037222:Collectins; D005787:Gene Frequency; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D012859:Sjogren's Syndrome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D037222:Collectins