OBJECTIVE: To investigate the distribution of promoter variants of the mannose-binding lectin (MBL) gene and correlations between the promoter variants and serum MBL concentrations in Chinese patients with systemic lupus erythematosus (SLE) and in healthy Chinese controls. METHODS: We studied the serum MBL levels and codon 54 mutation in 112 Chinese patients with SLE and 110 healthy controls. Genotyping of promoter variants of the MBL gene were done by polymerase chain reaction and allele-specific oligonucleotide hybridization. RESULTS: We found significant differences in the distribution of the 2 pairs of promoter polymorphisms, H/L and Y/X, between SLE patients and controls (P=0.018 and P=0.019, respectively). Analysis of the correlation between promoter haplotypes and serum MBL levels revealed HY as the highest-producing, LY as the intermediate-producing, and LX as the lowest-producing haplotypes. The LX haplotype was present at a frequency of 0.259 in SLE patients and 0.154 in controls and was significantly associated with SLE (P=0.019, odds ratio 1.79, 95% confidence interval 1.12-2.85). CONCLUSION: The low-producing promoter polymorphism of the MBL gene is associated with SLE, and a low serum MBL level is a risk factor for SLE. Even allowing for promoter polymorphisms and structural mutations of the MBL gene, serum MBL levels in SLE patients are still lower than those in controls, suggesting a trans-factor in regulating serum MBL levels.
OBJECTIVE: To investigate the distribution of promoter variants of the mannose-binding lectin (MBL) gene and correlations between the promoter variants and serum MBL concentrations in Chinese patients with systemic lupus erythematosus (SLE) and in healthy Chinese controls. METHODS: We studied the serum MBL levels and codon 54 mutation in 112 Chinese patients with SLE and 110 healthy controls. Genotyping of promoter variants of the MBL gene were done by polymerase chain reaction and allele-specific oligonucleotide hybridization. RESULTS: We found significant differences in the distribution of the 2 pairs of promoter polymorphisms, H/L and Y/X, between SLEpatients and controls (P=0.018 and P=0.019, respectively). Analysis of the correlation between promoter haplotypes and serum MBL levels revealed HY as the highest-producing, LY as the intermediate-producing, and LX as the lowest-producing haplotypes. The LX haplotype was present at a frequency of 0.259 in SLEpatients and 0.154 in controls and was significantly associated with SLE (P=0.019, odds ratio 1.79, 95% confidence interval 1.12-2.85). CONCLUSION: The low-producing promoter polymorphism of the MBL gene is associated with SLE, and a low serum MBL level is a risk factor for SLE. Even allowing for promoter polymorphisms and structural mutations of the MBL gene, serum MBL levels in SLEpatients are still lower than those in controls, suggesting a trans-factor in regulating serum MBL levels.
Authors: S Saevarsdottir; H Kristjansdottir; G Grondal; T Vikingsdottir; K Steinsson; H Valdimarsson Journal: Ann Rheum Dis Date: 2006-01-26 Impact factor: 19.103
Authors: R Takahashi; A Tsutsumi; K Ohtani; D Goto; I Matsumoto; S Ito; N Wakamiya; T Sumida Journal: Clin Exp Immunol Date: 2004-06 Impact factor: 4.330
Authors: Odirlei André Monticielo; Tamara Mucenic; Ricardo Machado Xavier; João Carlos Tavares Brenol; José Artur Bogo Chies Journal: Clin Rheumatol Date: 2008-01-24 Impact factor: 2.980
Authors: M A Seelen; L A Trouw; J W A van der Hoorn; F C Fallaux-van den Houten; T W J Huizinga; M R Daha; A Roos Journal: Clin Exp Immunol Date: 2003-11 Impact factor: 4.330