Mannose-binding lectin gene polymorphisms in Brazilian patients with systemic lupus erythematosus
| Autor: | J M Z Júnior, José Artur Bogo Chies, Tamara Mucenic, G G Rucatti, Ricardo Machado Xavier, G.K. da Silva, Nadine Glesse, Odirlei André Monticielo, João Carlos Tavares Brenol, B P dos Santos |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Genotype Mannose-Binding Lectin Polymerase Chain Reaction Rheumatology immune system diseases Polymorphism (computer science) Humans Lupus Erythematosus Systemic Medicine Genetic Predisposition to Disease Allele skin and connective tissue diseases Genotyping Alleles Mannan-binding lectin Polymorphism Genetic Lupus erythematosus business.industry Case-control study Odds ratio Middle Aged medicine.disease Case-Control Studies Immunology Female business Brazil Polymorphism Restriction Fragment Length |
| Zdroj: | Lupus. 19:280-287 |
| ISSN: | 1477-0962 0961-2033 |
| DOI: | 10.1177/0961203309351895 |
| Popis: | The mannose-binding lectin gene (MBL-2) has emerged as a candidate for systemic lupus erythematosus susceptibility, but studies in Brazilian population have not been conducted. To examine potential associations of mannose-binding lectin alleles G57E, G54D, IVSnt5, R52C and R52H with susceptibility to and clinical expression of systemic lupus erythematosus in southern Brazilian patients, we conducted a case—control study with 327 consecutive patients with diagnosis of systemic lupus erythematosus and 345 healthy controls. Genotyping was performed by restriction fragment length polymorphism—polymerase chain reaction assay. A statistically significant difference in the frequencies of allele R52C was observed in European-derived systemic lupus erythematosus patients when compared with controls (9.6% vs. 3.3%, p < 0.001, odds ratio: 3.15, 95% confidence interval: 1.76—5.62, p < 0.05). The frequencies of alleles G54D and G57E were not different between European-derived systemic lupus erythematosus patients and controls. There were no differences between clinical and laboratory features in systemic lupus erythematosus patients according to the presence or absence of mannose-binding lectin allelic variants. These results support an increased risk of systemic lupus erythematosus in European-derived individuals carrying allele R52C. Patients carrying this allele have an approximately three-fold higher odds ratio of developing systemic lupus erythematosus when compared with controls. Our data do not support associations between the mannose-binding lectin allelic variants studied and clinical expression of systemic lupus erythematosus. Lupus (2010) 19, 280—287. |
| Databáze: | OpenAIRE |
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