TY - JOUR
T1 - Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians
AU - Sandrin-Garcia, Paula
AU - Brandão, Lucas André Cavalcanti
AU - Coelho, Antônio Victor Campos
AU - Guimarães, Rafael Lima
AU - Pancoto, João Alexandre Trés
AU - Segat, Ludovica
AU - Donadi, Eduardo Antônio
AU - de Lima-Filho, José Luiz
AU - Crovella, Sergio
PY - 2011/6
Y1 - 2011/6
N2 - 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.
AB - 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.
KW - Antiphospholipid syndrome
KW - Mannose binding lectin
KW - MBL2 gene polymorphisms
KW - Nephritic disorders
KW - Systemic lupus erythematosus
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U2 - 10.1016/j.humimm.2011.03.007
DO - 10.1016/j.humimm.2011.03.007
M3 - Article
C2 - 21510992
AN - SCOPUS:79955769529
VL - 72
SP - 516
EP - 521
JO - Human Immunology
JF - Human Immunology
SN - 0198-8859
IS - 6
ER -