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The association between mannose-binding lectin gene polymorphism and rheumatic heart disease.
Hum Immunol. 2006 Dec; 67(12):991-8.HI

Abstract

Mannan-binding lectin (MBL) is an innate pattern recognition molecule known to play a key role in pathogen clearance. As MBL2 gene polymorphism is associated to an increased susceptibility to infection, we aimed to determine genetic variations in the MBL2 gene in rheumatic heart disease (RHD). Genetic variations in the promoter and exon 1 region of the MBL2 gene were analyzed in 107 patients with RHD and 105 controls by real-time polymerase chain reaction. The frequency of MBL2* A/A genotype was significantly higher in RHD patients (71/107, 66.36% vs 52/105, 49.52%, p<or=0.02, OR=1.99, 95% CI, 1.15-3.50). A/A genotypes were associated with higher levels of MBL in RHD compared with controls with the same genotype (p<or=0.004). The frequency of HYPA/HYPA, HYPA/LYQA, and LYQA/LYQA haplotypes was also increased in RHD (p<or=0.03, OR=1.98, 95% CI, 1.05-3.73). However, the frequency of MBL2 variant alleles (termed "O") was lower among patients (39/214, 18.2% vs 63/210, 30.0%, p<or=0.006, OR=0.52, 95% CI, 0.33-0.82), which was also seen for O/O genotypes (3/107, 2.8% vs 10/105, 9.5%, p<or=0.05, OR=0.27, 95% CI, 0.07-1.03). This data suggests a role for MBL genotypes in the susceptibility to RHD. However, it still remains unclear whether A/A homozygosity is a risk factor for RHD or rheumatic fever itself.

Authors+Show Affiliations

Department of Clinical Pathology, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil. iarareason@hc.ufpr.brNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

17174748

Citation

Messias Reason, Iara Jose, et al. "The Association Between Mannose-binding Lectin Gene Polymorphism and Rheumatic Heart Disease." Human Immunology, vol. 67, no. 12, 2006, pp. 991-8.
Messias Reason IJ, Schafranski MD, Jensenius JC, et al. The association between mannose-binding lectin gene polymorphism and rheumatic heart disease. Hum Immunol. 2006;67(12):991-8.
Messias Reason, I. J., Schafranski, M. D., Jensenius, J. C., & Steffensen, R. (2006). The association between mannose-binding lectin gene polymorphism and rheumatic heart disease. Human Immunology, 67(12), 991-8.
Messias Reason IJ, et al. The Association Between Mannose-binding Lectin Gene Polymorphism and Rheumatic Heart Disease. Hum Immunol. 2006;67(12):991-8. PubMed PMID: 17174748.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The association between mannose-binding lectin gene polymorphism and rheumatic heart disease. AU - Messias Reason,Iara Jose, AU - Schafranski,Marcelo Derbi, AU - Jensenius,Jens Christian, AU - Steffensen,Rudi, Y1 - 2006/10/09/ PY - 2006/05/31/received PY - 2006/08/28/revised PY - 2006/08/29/accepted PY - 2006/12/19/pubmed PY - 2007/2/3/medline PY - 2006/12/19/entrez SP - 991 EP - 8 JF - Human immunology JO - Hum. Immunol. VL - 67 IS - 12 N2 - Mannan-binding lectin (MBL) is an innate pattern recognition molecule known to play a key role in pathogen clearance. As MBL2 gene polymorphism is associated to an increased susceptibility to infection, we aimed to determine genetic variations in the MBL2 gene in rheumatic heart disease (RHD). Genetic variations in the promoter and exon 1 region of the MBL2 gene were analyzed in 107 patients with RHD and 105 controls by real-time polymerase chain reaction. The frequency of MBL2* A/A genotype was significantly higher in RHD patients (71/107, 66.36% vs 52/105, 49.52%, p<or=0.02, OR=1.99, 95% CI, 1.15-3.50). A/A genotypes were associated with higher levels of MBL in RHD compared with controls with the same genotype (p<or=0.004). The frequency of HYPA/HYPA, HYPA/LYQA, and LYQA/LYQA haplotypes was also increased in RHD (p<or=0.03, OR=1.98, 95% CI, 1.05-3.73). However, the frequency of MBL2 variant alleles (termed "O") was lower among patients (39/214, 18.2% vs 63/210, 30.0%, p<or=0.006, OR=0.52, 95% CI, 0.33-0.82), which was also seen for O/O genotypes (3/107, 2.8% vs 10/105, 9.5%, p<or=0.05, OR=0.27, 95% CI, 0.07-1.03). This data suggests a role for MBL genotypes in the susceptibility to RHD. However, it still remains unclear whether A/A homozygosity is a risk factor for RHD or rheumatic fever itself. SN - 0198-8859 UR - https://www.unboundmedicine.com/medline/citation/17174748/The_association_between_mannose_binding_lectin_gene_polymorphism_and_rheumatic_heart_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0198-8859(06)00487-3 DB - PRIME DP - Unbound Medicine ER -