Document Detail

A functional polymorphism of the vasoactive intestinal peptide receptor 1 gene correlates with the presence of HLA-B*2705 in Sardinia.
MedLine Citation:
PMID:  18668120     Owner:  NLM     Status:  MEDLINE    
The association of HLA-B27 with ankylosing spondylitis (AS) is the strongest among all inflammatory diseases. However, the exact role of these molecules in disease pathogenesis is still unknown. The existence of HLA-B27 variants rarely found in patients introduces a further level of complexity. It is now accepted that other genes of minor impact contribute to modify disease susceptibility and these genes might be diverse in different populations depending on the genetic background. We report here a study performed in Sardinia, an outlier population in which two major HLA-B27 subtypes are present, B (*)2705 strongly associated with AS and B (*)2709 which is not, and show the co-occurrence of the B (*)2705 allele with a single nucleotide polymorphism (SNP) mapping at 3'-UTR of the receptor 1 (VIPR1) for the vasoactive intestinal peptide (VIP), a neuropeptide with anti-inflammatory properties. This same SNP is associated with a different kinetics of down-modulation of the VIPR1 mRNA in monocytes after exposure to lipopolysaccharide (P=0.004). This particular setting, HLA-B (*)2705 and a functional polymorphism in VIPR1 gene, might be due to a founder effect or might be the result of a selective pressure. Irrespectively, the consequent downregulation of this receptor in the presence of a 'danger' signal might influence susceptibility to AS.
F Paladini; E Cocco; A Cauli; I Cascino; A Vacca; F Belfiore; M T Fiorillo; A Mathieu; R Sorrentino
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-07-31
Journal Detail:
Title:  Genes and immunity     Volume:  9     ISSN:  1476-5470     ISO Abbreviation:  Genes Immun.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-03     Completed Date:  2009-08-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100953417     Medline TA:  Genes Immun     Country:  England    
Other Details:
Languages:  eng     Pagination:  659-67     Citation Subset:  IM    
Department of Cell Biology and Development, Sapienza University of Rome, Roma, Italy.
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MeSH Terms
Founder Effect*
Gene Frequency
Genetic Predisposition to Disease
HLA-B27 Antigen / genetics*
Polymorphism, Single Nucleotide
Spondylitis, Ankylosing / genetics*
Vasoactive Intestinal Peptide / genetics*
Reg. No./Substance:
0/HLA-B27 Antigen; 37221-79-7/Vasoactive Intestinal Peptide

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