Case-Control Genotyping of the c.788C>T Variant of Transforming Growth Factor-Beta 1 Gene in Otosclerosis in the South Indian Population.

ABSTRACT:

Background

Otosclerosis is a common conductive hearing loss resulting from abnormal bone metabolism. The c.788C>T variant in the transforming growth factor-beta 1 gene is associated with otosclerosis in all studied populations, except the Indian population. In this study, we predicted the functional effects of reported variants in transforming growth factor-beta 1 and analyzed the c.788C>T variant in a case-control cohort from India and in the genomes present in public databases.

Methods

Clinically confirmed otosclerosis cases (n=120) and controls (n=120) were recruited and genotyped by polymerase chain reactionrestriction fragment length polymorphism and DNA sequencing. In addition, Ensembl 1000 Genome, Ensembl NHLBI Exome, GnomAD, and Genome Asia 100K human genome database

SUBMITTER: Kale D 

PROVIDER: S-EPMC9450088 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature