Mannose binding lectin polymorphisms in systemic lupus erythematosus in Spain

Abstract

Low mannose binding lectin (MBL) producer genotypes have been considered as a systemic lupus erythematosus (SLE) risk factor. The aim of this study was to explore whether polymorphisms in the MBL gene are associated with susceptibility to SLE and disease-specific clinical manifestations or with disease severity in SLE patients in Son Llatzer Hospital. MBL2 exon 1 and promoter polymorphisms were genotyped and MBL plasma levels were quantified by ELISA in 39 SLE cases and in 96 healthy controls. High MBL producer genotypes HYPA and LXPA were the most frequent haplotypes (65 and 62 participants, respectively). LYQC/HYPD, LXPA/LYQC and LYPB/HYPD were only found in SLE, and all of them were related to severe MBL deficiency. SLE patients showed a trend towards more severe MBL deficiency (MBL <100 ng/mL) compared to controls (10 [25.6%] and 11 [11.46%] respectively, P = 0.07). The wild-type genotype was more frequent in controls compared to SLE. The trend towards more severe MBL deficiency in SLE and the fact that some of the low-MBL producer genotypes were only found in SLE patients, suggest that low MBL levels or MBL2 variant could be a risk factor for the development of SLE.