MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 AlteredExpression disease BEFREE We had observed that high serum levels of MBL increased the risk of ischemic heart disease in patients with RA. 20110521 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE The genetic disposition for high MBL production was associated with ACPA positive RA irrespective of shared epitope. 24264011 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 AlteredExpression disease BEFREE Our results suggest MBL levels as a possible marker for RA susceptibility in a Brazilian population. 24751721 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE In conclusion, the present study suggests that the MIF-173G/C polymorphism is associated with RA susceptibility, but the MBL2 codon 54 polymorphism is not associated with RA. 22820623 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese. 11196679 2000
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE The lectin complement pathway is shown to be activated through association of agalactosyl IgG with mannan-binding lectin (MBL) in RA. 20824817 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis. 11891230 2002
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE MBL genotypes and plasma concentrations were retrospectively determined in 140 RA patients who were selected from a major cohort followed up prospectively for up to 32 years. 10728743 2000
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 AlteredExpression disease BEFREE Patients with RA had significantly lower serum MBL levels and higher frequency of codon-54 mutation of the MBL gene compared with controls. 10943857 2000
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 AlteredExpression disease LHGDN Patients with rheumatoid arthritis have higher levels of mannan-binding lectin than their first-degree relatives and unrelated controls. 17610322 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 AlteredExpression disease LHGDN S-nitrosylation of mannose binding lectin regulates its functional activities and the formation of autoantibody in rheumatoid arthritis. 18348874 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE Patients with RA had markedly higher MBL levels than their close relatives and controls, indicating that high MBL may predispose to RA. 17610322 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Therefore, the B variant of the MBL2 gene may be associated with protection from RA in our study population, and the promoter polymorphism (-550 nt) seems to have some role in disease progression. 16220211 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE Undetectable mannose binding lectin correlated with a strong trend toward poor survival in rheumatoid arthritis overall (P = 0.057). 30970022 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE Surfactant protein D (SP-D) shares important structural and functional properties with MBL suggesting that SP-D may be an additional RA disease modifier. 18052966 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE We analyzed 3 MBL2 gene polymorphisms in 322 Brazilian patients with RA and 345 ethnically matched healthy controls. 22002015 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE Undetectable Mannose Binding Lectin and Corticosteroids Increase Serious Infection Risk in Rheumatoid Arthritis. 28634103 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE When stratified for smoking, MBL-high genotype was strongly associated with RF-negative RA in never smokers (OR = 1.82, 95% CI 1.24-2.69) but not in ever smokers (OR = 0.96, 95% CI 0.73-1.30). 21496252 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Patients with early RA (n=158) not previously treated with disease modifying antirheumatic drugs, participating in a treatment trial (CIMESTRA study) were examined at inclusion for MBL2 pooled structural genotypes (O/O, A/O, A/A), regulatory MBL2 promoter polymorphism in position -221 (XX, XY, YY), anti-cyclic citrullinated peptide 2 antibodies (anti-CCP2), disease activity by Disease Activity Score-28 (DAS28 score), physical disability by Health Assessment Questionnaire (HAQ) score, and erosive changes in hands and feet (Sharp-van der Heijde score). 19273450 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE IgG glycosylation changes and MBL2 polymorphisms: associations with markers of systemic inflammation and joint destruction in rheumatoid arthritis. 22247351 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE The results suggest that MBL deficiency and the presence of MBL2 gene polymorphisms that lead to MBL deficiency are risk factors for the occurrence of miscarriage in patients with RA. 28898115 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE MBL genotype groups are not associated with RA disease susceptibility or severity in this large study including a confirmation cohort. 18562462 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE In an attempt to clarify this relationship, we developed this short review summarizing accumulated evidences in regard to MBL and RA and a meta-analysis to evaluate the influence of MBL2 polymorphisms on the susceptibility to RA. 26608926 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE We also studied the association between MBL genotypes and pregnancy outcomes in RA. 21281477 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Presence of MBL variant alleles was associated with early onset of RA. 10648014 2000