{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(11)"],"submitter":["Li CM"],"funding":["Eunice Kennedy Shriver National Institute of Child Health and Human Development"],"pubmed_abstract":["Hearing loss is a major public problem with a heritability of up to 70%. Catechol-O-methyltransferase (COMT) encodes an enzyme that is highly expressed in sensory hair cells of the inner ear. The association between <i>COMT</i> and hearing loss has not been reported previously in nationally representative population-based studies. A regression linear model was used to estimate associations between the allele/genotype of <i>COMT</i> and self-reported hearing loss based on 13,403 individuals from Wave IV of the Add Health study, a nationally representative sample of multiethnic U.S. young adults. The inverse variance-weighted effect magnitude was estimated using a genetic meta-analysis model. The \"A\" allele frequency of rs6480 (a missense variant in <i>COMT</i>) was 0.44. The prevalence of hearing loss was 7.9% for individuals with the \"A\" allele and 6.5% for those with the \"G\" allele. The \"A\" allele was significantly associated with increased hearing loss (<i>p</i> = 0.01). The prevalence of hearing loss was 6.0%, 7.2%, and 8.7% for individuals with GG, AG, and AA genotypes, respectively, which was consistent with a genetic additive model. The genotypic association model showed that rs4680 was significantly associated with increased hearing loss (<i>p</i> = 0.006). A missense variant of rs4680 in <i>COMT</i> was significantly associated with increased hearing loss among young adults in a multi-racial/ethnic U.S. population-based cohort."],"journal":["Biomedicines"],"pagination":["2756"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9687786"],"repository":["biostudies-literature"],"pubmed_title":["A Missense Variant in <i>COMT</i> Associated with Hearing Loss among Young Adults: The National Longitudinal Study of Adolescent to Adult Health (Add Health)."],"pmcid":["PMC9687786"],"pubmed_authors":["Li CM","Zhang J","Chen L","Chen G","Hoffman HJ"],"additional_accession":[]},"is_claimable":false,"name":"A Missense Variant in <i>COMT</i> Associated with Hearing Loss among Young Adults: The National Longitudinal Study of Adolescent to Adult Health (Add Health).","description":"Hearing loss is a major public problem with a heritability of up to 70%. Catechol-O-methyltransferase (COMT) encodes an enzyme that is highly expressed in sensory hair cells of the inner ear. The association between <i>COMT</i> and hearing loss has not been reported previously in nationally representative population-based studies. A regression linear model was used to estimate associations between the allele/genotype of <i>COMT</i> and self-reported hearing loss based on 13,403 individuals from Wave IV of the Add Health study, a nationally representative sample of multiethnic U.S. young adults. The inverse variance-weighted effect magnitude was estimated using a genetic meta-analysis model. The \"A\" allele frequency of rs6480 (a missense variant in <i>COMT</i>) was 0.44. The prevalence of hearing loss was 7.9% for individuals with the \"A\" allele and 6.5% for those with the \"G\" allele. The \"A\" allele was significantly associated with increased hearing loss (<i>p</i> = 0.01). The prevalence of hearing loss was 6.0%, 7.2%, and 8.7% for individuals with GG, AG, and AA genotypes, respectively, which was consistent with a genetic additive model. The genotypic association model showed that rs4680 was significantly associated with increased hearing loss (<i>p</i> = 0.006). A missense variant of rs4680 in <i>COMT</i> was significantly associated with increased hearing loss among young adults in a multi-racial/ethnic U.S. population-based cohort.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-05-18T03:09:36.256Z","creation":"2025-02-19T03:23:22.796Z"},"accession":"S-EPMC9687786","cross_references":{"pubmed":["36359276"],"doi":["10.3390/biomedicines10112756"]}}