Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene.

ABSTRACT:

Background

ADAM33 has been identified as an asthma-associated gene in an out-bred population. Genetic studies suggested that the functional role of this metalloprotease was in airway remodeling. However, the mechanistic roles of the disease-associated SNPs have yet to be elucidated especially in the context of the pathophysiology of asthma. One disease-associated SNP, BC+1, which resides in intron BC toward the 5' end of ADAM33, is highly associated with the disease.

Methods

The region surrounding this genetic variant was cloned into a model system to determine if there is a regulatory element within this intron that influences transcription.

Results

The BC+1 protective allele did not impose any affect on the transcription of the reporter gene. However, the at-risk al

SUBMITTER: Del Mastro RG 

PROVIDER: S-EPMC1955437 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature