title: Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese.
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 polymorphisms 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.
authors.affiliation: Kyushu University Graduate School of Medical Sciences, Fukuoka 812-8582, Japan. horiuchi@intmed1.med.kyushu-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: C
authors.initials: C
authors.lastname: Morita
authors.forename: T
authors.initials: T
authors.lastname: Sawabe
authors.forename: S
authors.initials: S
authors.lastname: Harashima
authors.forename: H
authors.initials: H
authors.lastname: Nakashima
authors.forename: H
authors.initials: H
authors.lastname: Miyahara
authors.forename: C
authors.initials: C
authors.lastname: Hashimura
authors.forename: M
authors.initials: M
authors.lastname: Kondo
mesh_terms: D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D037222:Collectins; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D037102:Lectins / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008297:Male; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors
chemical_list: D002352:Carrier Proteins; D037222:Collectins; D017931:DNA Primers; D037102:Lectins