Association of mannose-binding lectin 2 gene polymorphic variants with susceptibility and clinical progression in systemic lupus erythematosus

Clinical and Experimental Rheumatology

Vanessa S. Mattevi¹  Ricardo M. Xavier¹  Bruno P. dos Santos¹  Nadine Glesse¹  Guilherme G. Rucatti¹  Odirlei A. Monticielo¹  Gabriela K. da Silva¹  José A.B. Chies¹  Joao C.T. Brenol¹ 

关键词: Systemic lupus erythematosus;    mannose-binding lectin;    polymorphism;    complement system proteins;    Mannose-binding lectin;    SLE;   

DOI  :  

学科分类：医学（综合）

来源: Pacini Editore SpA

【 摘 要 】

OBJECTIVES: This study investigates the role of mannose-binding lectin (MBL) in susceptibility and clinical expression of systemic lupus erythematosus (SLE), through the analysis of promoter region and exon 1 polymorphisms of the MBL2 gene. METHODS: We analysed 325 SLE patients from the Hospital de Clínicas de Porto Alegre and 344 controls. All individuals were grouped according to ethnic origin. Genotyping of the promoter and exon 1 variants were performed by PCR-SSP and PCR-RFLP, respectively. Polymorphisms frequencies between patients and controls were compared by Chi-square or Fisher`s exact tests. RESULTS: A statistically significant difference was observed among the frequencies of both promoter haplotypes (p=0.005) and haplotypic combinations (p=0.004) in African-derived patients, with a higher incidence of HY haplotype and LY/HY combination in SLE patients when compared to controls. These results showed a tendency to higher frequencies of genotypes related to high MBL levels in African-derived patients. A joint analysis of data from the promoter and exon 1 polymorphisms showed an increased frequency of genotypes conferring a deficient of MBL levels in European-derived patients (p

【 授权许可】

Unknown