Structural Polymorphisms in the Mannose-Binding Lectin Gene Are Associated with Juvenile Idiopathic Arthritis

Gergely, P; Pazár, Borbála; Nagy, Zsolt B.; Gombos, Tímea; Rajczy, Katalin; Balogh, Zsolt J.; Orbán, Ilona; Sevcic, Krisztina; Poór, Gyula

doi:10.3899/jrheum.080681

Cited by 13 publications

(14 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other low MBL-producing haplotypes except LYPB were not associated with AS susceptibility. Considering inconsistent results of previous MBL genetic polymorphism studies about other autoimmune disease [6][7][8][9][23][24][25][26], and no association between serum MBL level and AS or their radiographic damages in other study [10], MBL deficiency itself may not be associated with AS susceptibility. MBL2 genetic polymorphisms may play some roles in susceptibility to AS, not by MBL production or functional abnormality, but by other unknown mechanisms, such as complement activation [27], cytokines response [28], or TLR2 activation [29].…”

Section: Discussionmentioning

confidence: 82%

“…Recently, van de Geijn et al [25] reported that MBL2 genotype groups (high MBL producers (YA/YA or YA/XA), intermediate producers (XA/XA or YA/O), and low producers (XA/O, O/O)) were not associated with RA disease susceptibility or severity in two large cohorts (a nation-wide Dutch female RA cohort, and Dutch Caucasian hospital cohort). Gergely et al [26] reported that low MBL-producing genotypes and serum levels are associated with JIA. However, despite these studies on autoimmune inflammatory diseases and MBL polymorphisms, no report has been issued on associations between AS and MBL genetic polymorphisms.…”

Section: Discussionmentioning

confidence: 98%

See 1 more Smart Citation

Mannose-binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis

Kim

Lee

et al. 2011

Rheumatol Int

View full text Add to dashboard Cite

Mannose-binding lectin (MBL) serum levels or genetic polymorphisms are known to be associated with autoimmune diseases. We investigated MBL2 genetic polymorphisms in 95 patients with ankylosing spondylitis (AS) and in 252 healthy controls. MBL2 promoter polymorphisms at -550 (H/L), -221 (Y/X), +4 (P/Q), and exon polymorphisms at codon 52 (Arg/Cys), 54 (Gly/Asp, or A/B), and 57 (Gly/Glu) were investigated using polymerase chain reaction and restriction fragment length polymorphism. Genetic polymorphisms were analyzed using SPSS (ver 12.0) and Haploview (ver 4.2). MBL2 single-nucleotide polymorphisms (SNPs) were not significantly different between patients with AS and controls. By haplotype analysis, LYPB frequency was significantly lower in AS (10.7% vs. 21.3%, OR 0.441, 95% CI: 0.266-0.733, P value = 0.001, Pc value = 0.008). The frequency of LYPA (15.4% vs. 9.2%, OR 1.802, 95% CI: 1.097-2.961, P value = 0.019, Pc value = 0.101) and HYPB (3.5% vs. 0.8%, OR 4.457, 95% CI: 1.289-15.409, P value = 0.011, Pc value = 0.060) tended to be higher in AS. Clinical characteristics of AS were not associated with any MBL2 SNP or haplotype. In summary, haplotypes of MBL2 genetic polymorphisms were found to be associated with AS, which suggests that MBL2 genetic polymorphisms may play a role during the development of AS.

show abstract

Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 98%

Mannose-binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis

Kim

Lee

et al. 2011

Rheumatol Int

View full text Add to dashboard Cite

show abstract

“…Based on this analysis, we selected a total of 14 SNPs, including 2 SNPs (rs1800450 38 , rs7096206 39 ) in MBL2 , one SNPs (911887 40 ) in SFTPD , one SNP (rs1323461 41 ) in CLEC12A , one SNP (rs2377422 42 ) in CLEC4A , one SNP (3764022 43 ) in CLEC2D , one SNP (rs2287886 44 ) in CD209 , one SNPs (rs4763879 15 ) in CD69 , one SNP (rs2302489 45 ) in KLRD1 , one SNP (rs2734440 17 ) in KLRC1 , one SNP (rs2255336 17 ) in KLRK1 , one SNP (rs2617170 31 ) in KLRC4 , one SNP (rs4763655 18 ) in KLRB1 and one SNP (rs1121401 46 ) in KLRG1 . CLEC16A 47 and selectins 48 were excluded from this study because they have been reported previously by our team.…”

Section: Methodsmentioning

confidence: 99%

Genetic polymorphisms of C-type lectin receptors in Behcet’s disease in a Chinese Han population

Yang

Tan

Deng

et al. 2017

Sci Rep

View full text Add to dashboard Cite

C-type lectin receptors (CLRs) have been demonstrated to be involved in several autoimmune diseases. The role of CLRs in Behcet’s disease (BD) is unknown and thus was the purpose of this study. A two-stage association study was carried out and a total of 766 BD patients and 1674 healthy controls were recruited. Genotyping of 14 SNPs of 13 genes in CLRs was carried out by iPLEX Gold genotyping or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The expression of mannose binding lectin 2 (MBL2) and killer cell lectin like receptor C4 (KLRC4) was measured by Real-time PCR. Significantly increased frequencies of the A allele as well as AA genotype of rs1800450 in MBL2 (Pc = 2.50 × 10−6, OR = 1.494; Pc = 2.24 × 10−6,OR = 2.899; respectively) and TT genotype of rs2617170 in KLRC4 (Pc = 2.53 × 10−6, OR = 1.695) and decreased frequencies of GG genotype of rs1800450 (Pc = 1.56 × 10−3, OR = 0.689) and C allele as well as CC genotype of rs2617170 (Pc = 2.05 × 10−9,OR = 0.664; Pc = 1.20 × 10−5, OR = 0.585; respectively) were observed in BD. Two variants, p.Gly54Asp (rs1800450) and p.Asn104Ser (rs2617170) affect MBL2 and KLRC4 protein stability and expression. Our study demonstrates that the MBL2/rs1800450 and KLRC4/rs2617170 are susceptibility factors for BD in a Chinese Han population.

show abstract

“…MBL is uniformly deposited on the pathogens' surfaces that bear mannose residues, promoting opsonophagocytosis by macrophages, activating complement by the lectin pathway, or modulating inflammatory responses [2,3,12]. MBL deficiency has also been suggested to be associated with other autoimmune diseases, such as systemic lupus erythematosus and juvenile idiopathic arthritis [13,14]. In addition, high and low serum levels of MBL are reported to be associated with cardiovascular diseases [15].…”

Section: Discussionmentioning

confidence: 99%

Recurrent infections in a rheumatoid arthritis patient with a primary immunodeficiency, treated with conventional and biologic disease-modifying anti-rheumatic drugs

Diamantopoulos

Haugeberg

2011

Mod Rheumatol

View full text Add to dashboard Cite

A 64-year-old woman with longstanding rheumatoid arthritis suffered from recurrent severe infections after treatment with both synthetic and biologic disease-modifying anti-rheumatic drugs (DMARDs). She was found to have mannose-binding lectin (MBL) deficiency. MBL deficiency is associated with increased risk of infections, in particular in individuals treated with immunomodulating drugs. Patients with a history of recurrent infections in childhood, and severe infections after treatment with synthetic or biologic DMARDs, should be tested for MBL deficiency.

show abstract

Structural Polymorphisms in the Mannose-Binding Lectin Gene Are Associated with Juvenile Idiopathic Arthritis

Abstract: Our findings suggest that genetically determined low MBL levels may predispose children to JIA in a Hungarian population. These data warrant further research to investigate the role of the lectin-dependent complement system in the pathogenesis of JIA.

Cited by 13 publications

References 18 publications

Mannose-binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis

Mannose-binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis

Genetic polymorphisms of C-type lectin receptors in Behcet’s disease in a Chinese Han population

Recurrent infections in a rheumatoid arthritis patient with a primary immunodeficiency, treated with conventional and biologic disease-modifying anti-rheumatic drugs

Contact Info

Product

Resources

About