Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

ABSTRACT: Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes in which an association has been reported include BMP2, COL1A1, FGF2, PPP2R5B and TGFB1. However, follow up studies have often failed to replicate initial positive results. The aim of this study was to establish if an association exists between eight single nucleotide polymorphisms (SNPs) in these six previously implicated genes and otosclerosis in a British case-control cohort (n = 748). Evidence of an association between rs1800472 in TGFB1 and otosclerosis was found (p = 0.

SUBMITTER: Mowat AJ 

PROVIDER: S-EPMC5973954 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature