Article
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.
Annals of human genetics - 1 Mar 2009
Thys M, Schrauwen I, Vanderstraeten K, Dieltjens N, Fransen E, Ealy M, Cremers C W R J, van de Heyning P, Vincent R, Offeciers E, Smith R H, van Camp G
Abstract excerpt
Otosclerosis is one of the most common forms of hearing loss in the European population. We have identified a SNP in the TGFB1 (transforming growth factor beta 1) gene that is associated with susceptibility to otosclerosis. The protective allele of this variant, with isoleucine at position 263 of the protein, is more biologically active than the risk allele, which has a threonine in this position. Because recent...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.