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Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis.
J Rheumatol. 2009 Apr; 36(4):843-7.JR

Abstract

OBJECTIVE

To investigate the possible association between polymorphisms of the mannose-binding lectin gene (MBL2) and susceptibility to juvenile idiopathic arthritis (JIA).

METHODS

We performed a case-control association study including 118 Hungarian patients with JIA and 118 sex-matched healthy controls. MBL genotyping for the 3 mutant structural alleles at codons 54 (B), 57 (C), and 52 (D) in exon 1 and the promoter polymorphisms at position -550 (HL) and -221 (YX) were carried out by real-time PCR allelic discrimination. Serum level of MBL was determined by ELISA.

RESULTS

Variant allele frequencies of both codon 52 and 57 polymorphisms in the MBL2 gene were significantly overrepresented in JIA (p=0.001 and p=0.004, respectively). The frequency of low MBL genotypes (XA/XA, YA/YO, XA/YO, and YO/YO) in JIA was higher than that in healthy controls (p=0.001). Serum MBL concentrations were found to be significantly lower in JIA patients versus control subjects (p=0.001). The 2 promoter polymorphisms and codon 54 SNP of the MBL2 gene were not associated with JIA.

CONCLUSION

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.

Authors+Show Affiliations

1st Department of Rheumatology, National Institute of Rheumatology and Physiotherapy, Frankel Leó u. 25-29, Budapest, H-1023 Hungary.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19286845

Citation

Gergely, Péter, et al. "Structural Polymorphisms in the Mannose-binding Lectin Gene Are Associated With Juvenile Idiopathic Arthritis." The Journal of Rheumatology, vol. 36, no. 4, 2009, pp. 843-7.
Gergely P, Pazár B, Nagy ZB, et al. Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis. J Rheumatol. 2009;36(4):843-7.
Gergely, P., Pazár, B., Nagy, Z. B., Gombos, T., Rajczy, K., Balogh, Z., Orbán, I., Sevcic, K., & Poór, G. (2009). Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis. The Journal of Rheumatology, 36(4), 843-7. https://doi.org/10.3899/jrheum.080681
Gergely P, et al. Structural Polymorphisms in the Mannose-binding Lectin Gene Are Associated With Juvenile Idiopathic Arthritis. J Rheumatol. 2009;36(4):843-7. PubMed PMID: 19286845.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis. AU - Gergely,Péter,Jr AU - Pazár,Borbála, AU - Nagy,Zsolt B, AU - Gombos,Tímea, AU - Rajczy,Katalin, AU - Balogh,Zsolt, AU - Orbán,Ilona, AU - Sevcic,Krisztina, AU - Poór,Gyula, Y1 - 2009/03/13/ PY - 2009/3/17/entrez PY - 2009/3/17/pubmed PY - 2009/6/2/medline SP - 843 EP - 7 JF - The Journal of rheumatology JO - J. Rheumatol. VL - 36 IS - 4 N2 - OBJECTIVE: To investigate the possible association between polymorphisms of the mannose-binding lectin gene (MBL2) and susceptibility to juvenile idiopathic arthritis (JIA). METHODS: We performed a case-control association study including 118 Hungarian patients with JIA and 118 sex-matched healthy controls. MBL genotyping for the 3 mutant structural alleles at codons 54 (B), 57 (C), and 52 (D) in exon 1 and the promoter polymorphisms at position -550 (HL) and -221 (YX) were carried out by real-time PCR allelic discrimination. Serum level of MBL was determined by ELISA. RESULTS: Variant allele frequencies of both codon 52 and 57 polymorphisms in the MBL2 gene were significantly overrepresented in JIA (p=0.001 and p=0.004, respectively). The frequency of low MBL genotypes (XA/XA, YA/YO, XA/YO, and YO/YO) in JIA was higher than that in healthy controls (p=0.001). Serum MBL concentrations were found to be significantly lower in JIA patients versus control subjects (p=0.001). The 2 promoter polymorphisms and codon 54 SNP of the MBL2 gene were not associated with JIA. CONCLUSION: 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. SN - 0315-162X UR - https://www.unboundmedicine.com/medline/citation/19286845/Structural_polymorphisms_in_the_mannose_binding_lectin_gene_are_associated_with_juvenile_idiopathic_arthritis_ L2 - http://www.jrheum.org/cgi/pmidlookup?view=long&pmid=19286845 DB - PRIME DP - Unbound Medicine ER -