Investigation of the association between concentration and gene polymorphisms of mannose binding lectin with clinical findings of systemic lupus erythematosus

ABSTRACTInvestigation Of The Association Between Concentration And GenePolymorphisms Of Mannose Binding Lectin With Clinical Findings Of SystemicLupus ErythematosusSystemic Lupus Erythematosus is an autoimmune, chronic, inflammatorydisease which can be encountered with diverse clinical findings. It was shown withvarious clinical studies that defects of complement system had important roles inetiopathogenesis of Systemic Lupus Erythematosus and homozygote deficiency of C1qcould lead to Systemic Lupus Erythematosus so it was thought that in the deficiency ofmannose binding lectin which was homologous of C1q was lead to Systemic LupusErythematosus. Three single nucleotide polymorphism of mannose binding lectin genewhich caused to decrease in serum mannose binding lectin concentration were defined.In this study, we measured serum mannose binding lectin concentration andsearched codon 54 and 57 mutations of mannose binding lectin gene both in SystemicLupus Erythematosus patients and control group. We investigated the correlation ofvarious clinical findings with serum concentration of mannose binding lectin andvariant alleles of mannose binding lectin gene63 Systemic Lupus Erythematosus patients and 162 healthy controls wereincluded into study. Mannose binding lectin gene mutations of codon 57 were found inone control and in none of Systemic Lupus Erythematosus patients. Codon 54 mutationwas increased in Systemic Lupus Erythematosus patient relative to control subjects butthere was no statistically significant difference between two groups (p=0, 05).Mannose binding lectin serum concentration were studied and compared insubjects with and without codon 54 mutations of mannose binding lectin gene. Therewas statistically significant decrease in serum mannose binding lectin concentration insubject with codon 54 gene mutation (p= 0,0001). Relatively higher decrease inmannose binding lectin concentration in Systemic Lupus Erythematosus patientscompared to control group was statistically significant (p= 0,0001). Correlation ofCodon 54 gene mutation and concentration of mannose binding lectin with clinicalfindings, infection and disease activation was not statistically significant.In conclusion, although presence of codon 54 gene mutations and decrease inmannose binding lectin concentration aren?t correlated with clinical characteristics ofpatients, these factors may be important in the development of Systemic LupusErythematosus. Further large group studies are needed to reveal the exact relationship.Key Words: Codon 54, codon 57, mannose binding lectin, mutation, SystemicLupus Erythematosus