Genetic Association Analysis in a Clinically and Histologically Confirmed Otosclerosis Population Confirms Association With the TGFB1 Gene but Suggests an Association of the RELN Gene With a Clinically Indistinguishable Otosclerosis-Like Phenotype

Abstract

Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis. The fact that other genes did not replicate could be due to different reasons like lack of power (BMP2 and BMP4) and possible false-positive initial association (COL1A1 and AGT). A plausible explanation for the lack of association for RELN is that RELN could be associated with a specific otosclerosis-like phenotype that is different from the histologically confirmed phenotype of the patients in this study, and that is clinically not distinguishable.