rs11643684 - MMP2-AS1, MMP2

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss - Unknown journal (n.d.) · Unknown authors · PubMed 35580588

  ABSTRACT: Summary Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance

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