OBJECTIVE: The aim of this study was to investigate whether polymorphism of the mannose-binding lectin 2 (MBL2) gene is related to the occurrence of systemic AA amyloidosis in patients with rheumatoid arthritis (RA). METHODS: MBL2 structural gene polymorphisms at codon 52 (CGT-->TGT, Arg-->Cys; D), codon 54 (GGC-->GAC, Gly-->Asp; B) and codon 57 (GGA-->GAA, Gly--> Glu; C), and MBL2 promoter region polymorphism at position -221 (G-->C) were examined in 57 patients with RA complicated by biopsy-proven reactive amyloidosis and 51 control RA patients without amyloid. RESULTS: A strong association was found between the presence of a structural MBL2 gene variant O (B, D or C) and the occurrence of amyloidosis in RA patients: 29 of 57 (50.9%) of the RA patients with amyloid had a variant allele compared with 12 of 51 (23.5%) of the RA patients without amyloid (OR 3.37, 95% CI 1.47-7.72; P = 0.004). CONCLUSION: We conclude that variant MBL2 structural genotype constitutes a significant risk factor for reactive amyloidosis in RA and that the increased risk is probably related to MBL-mediated impairment of mononuclear phagocyte function.
OBJECTIVE: The aim of this study was to investigate whether polymorphism of the mannose-binding lectin 2 (MBL2) gene is related to the occurrence of systemic AA amyloidosis in patients with rheumatoid arthritis (RA). METHODS:MBL2 structural gene polymorphisms at codon 52 (CGT-->TGT, Arg-->Cys; D), codon 54 (GGC-->GAC, Gly-->Asp; B) and codon 57 (GGA-->GAA, Gly--> Glu; C), and MBL2 promoter region polymorphism at position -221 (G-->C) were examined in 57 patients with RA complicated by biopsy-proven reactive amyloidosis and 51 control RApatients without amyloid. RESULTS: A strong association was found between the presence of a structural MBL2 gene variant O (B, D or C) and the occurrence of amyloidosis in RApatients: 29 of 57 (50.9%) of the RApatients with amyloid had a variant allele compared with 12 of 51 (23.5%) of the RApatients without amyloid (OR 3.37, 95% CI 1.47-7.72; P = 0.004). CONCLUSION: We conclude that variant MBL2 structural genotype constitutes a significant risk factor for reactive amyloidosis in RA and that the increased risk is probably related to MBL-mediated impairment of mononuclear phagocyte function.
Authors: Mari A Kaunisto; Lisa Sjölind; Riitta Sallinen; Kim Pettersson-Fernholm; Markku Saraheimo; Sara Fröjdö; Carol Forsblom; Johan Fagerudd; Troels K Hansen; Allan Flyvbjerg; Maija Wessman; Per-Henrik Groop Journal: Diabetes Date: 2009-04-14 Impact factor: 9.461
Authors: Barbara S Kahlow; Renato Nisihara; Roberta Petisco; Shirley R R Utiyama; Iara J Messias-Reason; Isabela Goeldner; Thelma L Skare Journal: Int J Cardiol Heart Vasc Date: 2018-07-05