Cis-acting allelic variation in MUC5B mRNA expression is associated with different promoter haplotypes.

摘要: P>Mucins play a critical role in protecting and clearing the airways of noxious materials. Genetic variation that influences this environmental response is likely to affect respiratory disease susceptibility. It has been reported previously promoter MUC5B, gene encodes one two major gel-forming mucins (MUC5B) mucus tract, associated with susceptibility diffuse panbronchiolitis, genetic difference activity can be detected vitro. The aim study was determine whether vivo. Here, we undertake RNA transcript expression studies, making use human fetal tissue explore constitutive differences. We compare vivo levels heterozygotes Bayesian method, PHASE associate exonic simple nucleotide polymorphisms (SNPs) SNPs generate haplotypes. successfully show haplotypic differences MUC5B This should taken into account future studies on disease.