Mannose binding lectin polymorphisms in systemic lupus erythematosus in Spain

Autor: Inés Losada López, Mercedes García Gasalla, Juan González Moreno, Araceli Serrano, Francisco Javier Domínguez Valdés, Joan Milà, Antoni Payeras
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: European Journal of Inflammation, Vol 14 (2016)
Druh dokumentu: article
ISSN: 1721-727X
1721727X
DOI: 10.1177/1721727X16646385
Popis: 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 Llàtzer 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
Databáze: Directory of Open Access Journals
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