Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese

Takahiko Horiuchi, H. Tsukamoto, C. Morita, T. Sawabe, S. Harashima, H. Nakashima, H. Miyahara, C. Hashimura, M. Kondo

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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.

Original languageEnglish
Pages (from-to)464-466
Number of pages3
JournalGenes and Immunity
Volume1
Issue number7
DOIs
Publication statusPublished - Jan 1 2000

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Mannose-Binding Lectin
Systemic Lupus Erythematosus
Rheumatoid Arthritis
Mutation
Genes
Genetic Promoter Regions
Gene Frequency
Codon
Exons
Polymerase Chain Reaction
Infection
Mannose-Binding Protein Deficiency

All Science Journal Classification (ASJC) codes

  • Immunology
  • Genetics
  • Genetics(clinical)

Cite this

Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese. / Horiuchi, Takahiko; Tsukamoto, H.; Morita, C.; Sawabe, T.; Harashima, S.; Nakashima, H.; Miyahara, H.; Hashimura, C.; Kondo, M.

In: Genes and Immunity, Vol. 1, No. 7, 01.01.2000, p. 464-466.

Research output: Contribution to journalArticle

Horiuchi, T, Tsukamoto, H, Morita, C, Sawabe, T, Harashima, S, Nakashima, H, Miyahara, H, Hashimura, C & Kondo, M 2000, 'Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese', Genes and Immunity, vol. 1, no. 7, pp. 464-466. https://doi.org/10.1038/sj.gene.6363710
Horiuchi, Takahiko ; Tsukamoto, H. ; Morita, C. ; Sawabe, T. ; Harashima, S. ; Nakashima, H. ; Miyahara, H. ; Hashimura, C. ; Kondo, M. / Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese. In: Genes and Immunity. 2000 ; Vol. 1, No. 7. pp. 464-466.
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AU - Harashima, S.

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