RGD Reference Report - Association of HYPA haplotype in the mannose-binding lectin gene-2 with Behcet's disease. - Rat Genome Database

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Association of HYPA haplotype in the mannose-binding lectin gene-2 with Behcet's disease.

Authors: Park, KS  Min, K  Nam, JH  Bang, D  Lee, ES  Lee, S 
Citation: Park KS, etal., Tissue Antigens. 2005 Mar;65(3):260-5.
RGD ID: 1582154
Pubmed: PMID:15730518   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1399-0039.2005.00363.x   (Journal Full-text)

Behcet's disease (BD) is a multisystemic, recurrent inflammatory disease caused by the combinations of multiple genetic and environmental factors. Moreover, the MBL2 gene single-nucleotide polymorphisms and haplotypes are known to increase the susceptibility to inflammatory disease and to alter the serum levels of mannose-binding lectin (MBL. We postulated that the haplotypes of the MBL2 gene influence therapeutic response in BD, thus affecting the clinical symptoms in 282 BD patients. The promoter region, MBL2-550*C/*C (L/L) homozygote was found to have a lower frequency in BD patients than that in controls. No difference was observed in the allele frequencies of G-221C (Y/X), C+4T (P/Q) or Gly54Asp (A/B) of the MBL2 gene in BD patients and in controls. The HYPA haplotype contributed to BD occurrence, whereas the LYPA haplotype was negatively associated with BD. BD patients with several symptoms and with an earlier disease-onset age had a higher HYPA haplotype frequency. BD patients showing poor response (S) to therapy had a higher HYPA frequency than those showing good response (M). It seems that possessing HYPA increases the risk of BD and that the MBL2 HYPA haplotype plays a role in MBL levels and increases the susceptibility to BD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease susceptibilityIAGP 1582154DNA:polymorphisms:5' utr and exon:multiple (human)RGD 
Behcet's disease susceptibilityISOMBL2 (Homo sapiens)1582154; 1582154DNA:polymorphisms:5' utr and exon:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mbl2  (mannose binding lectin 2)

Genes (Mus musculus)
Mbl2  (mannose-binding lectin (protein C) 2)

Genes (Homo sapiens)
MBL2  (mannose binding lectin 2)

Additional Information