Open AccessCase–Control Genotyping of the c.788C>T Variant of Transforming Growth Factor-Beta 1 Gene in Otosclerosis in the South Indian Population
Author(s) -
Deepa Kale,
Santhanam Rekha,
Vinoth Sigamani,
Ravi Ramalingam,
Madasamy Parani
Publication year - 2022
Publication title -
pubmed central
Language(s) - English
Resource type - Journals
eISSN - 2148-3817
DOI - 10.5152/iao.2022.21170
Subject(s) - otosclerosis , genetics , genotyping , medicine , allele frequency , population , single nucleotide polymorphism , odds ratio , biology , allele , gene , genotype , surgery , environmental health
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.