Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians

Paula Sandrin-Garcia, Lucas André Cavalcanti Brandão, Antônio Victor Campos Coelho, Rafael Lima Guimarães, João Alexandre Trés Pancoto, Ludovica Segat, Eduardo Antônio Donadi, José Luiz de Lima-Filho, Sergio Crovella

Research output: Contribution to journalArticle

Abstract

Susceptibility to systemic lupus erythematosus (SLE) has been associated with immunologic, environmental, and genetic factors. To uncover a possible association between MBL2 gene polymorphisms and SLE, we analyzed functional polymorphisms in the promoter and first exon of the MBL2 gene in 134 Brazilian SLE patients and 101 healthy controls. Genotype and allele frequencies of MBL2 A/O polymorphism were significantly different between patients and controls, and the O allele was associated with an increased risk of SLE. An association between low mannose binding lectin (MBL) producer combined genotypes and increased risk for SLE was also reported. Furthermore, when stratifying SLE patients according to clinical and laboratory data, an association between the A/O genotype and nephritic disorders and between the X/Y genotype and antiphospholipid syndrome was evident. Combined genotypes responsible for low MBL production were more frequently observed in SLE patients with nephritis. Our results indicate MBL2 polymorphisms as possible risk factors for SLE development and disease-related clinical manifestations.

Original languageEnglish
Pages (from-to)516-521
Number of pages6
JournalHuman Immunology
Volume72
Issue number6
DOIs
Publication statusPublished - Jun 2011

Keywords

  • Antiphospholipid syndrome
  • Mannose binding lectin
  • MBL2 gene polymorphisms
  • Nephritic disorders
  • Systemic lupus erythematosus

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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    Sandrin-Garcia, P., Brandão, L. A. C., Coelho, A. V. C., Guimarães, R. L., Pancoto, J. A. T., Segat, L., Donadi, E. A., de Lima-Filho, J. L., & Crovella, S. (2011). Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians. Human Immunology, 72(6), 516-521. https://doi.org/10.1016/j.humimm.2011.03.007