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.
Pubmed: (View Article at PubMed) PMID:15730518
DOI: Full-text: DOI:10.1111/j.1399-0039.2005.00363.x

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.

Annotation

Disease Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 1582154
Created: 2006-11-02
Species: All species
Last Modified: 2006-11-02
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.