Li Chuan-Ming, Chen Le, Chen Guanjie, Zhang Jianhua, Hoffman Howard J
Epidemiology and Statistics Program, Division of Scientific Programs, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Biomedicines. 2022 Oct 31;10(11):2756. doi: 10.3390/biomedicines10112756.
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 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 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 ) 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 ( = 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 ( = 0.006). A missense variant of rs4680 in was significantly associated with increased hearing loss among young adults in a multi-racial/ethnic U.S. population-based cohort.
听力损失是一个重大的公共问题，其遗传度高达70%。儿茶酚-O-甲基转移酶（COMT）编码一种在内耳感觉毛细胞中高度表达的酶。此前在全国代表性的基于人群的研究中尚未报道[该基因]与听力损失之间的关联。基于美国多民族年轻成年人的全国代表性样本——“青少年健康纵向研究”第四波中的13403名个体，使用回归线性模型来估计[该基因的]等位基因/基因型与自我报告的听力损失之间的关联。使用遗传荟萃分析模型估计逆方差加权效应大小。rs6480（[该基因中的]一个错义变体）的“A”等位基因频率为0.44。携带“A”等位基因的个体听力损失患病率为7.9%，携带“G”等位基因的个体为6.5%。“A”等位基因与听力损失增加显著相关（P = 0.01）。GG、AG和AA基因型个体的听力损失患病率分别为6.0%、7.2%和8.7%，这与遗传加性模型一致。基因型关联模型显示，rs4680与听力损失增加显著相关（P = 0.006）。在美国一个基于多种族/民族人群的队列中，rs4680在[该基因中的]一个错义变体与年轻成年人听力损失增加显著相关。
