Article
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
Communications biology - 9 Jun 2021
Ivarsdottir Erna V, Holm Hilma, Benonisdottir Stefania, Olafsdottir Thorhildur, Sveinbjornsson Gardar, Thorleifsson Gudmar, Eggertsson Hannes P, Halldorsson Gisli H, Hjorleifsson Kristjan E, Melsted Pall, Gylfason Arnaldur, Arnadottir Gudny A, Oddsson Asmundur, Jensson Brynjar O, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Juliusdottir Thorhildur, Stefansdottir Lilja, Tragante Vinicius, Halldorsson Bjarni V, Petersen Hannes, Thorgeirsson Gudmundur, Thorsteinsdottir Unnur, Sulem Patrick, Hinriksdottir Ingibjorg, Jonsdottir Ingileif, Gudbjartsson Daniel F, Stefansson Kari
Abstract excerpt
Age-related hearing impairment (ARHI) is the most common sensory disorder in older adults. We conducted a genome-wide association meta-analysis of 121,934 ARHI cases and 591,699 controls from Iceland and the UK. We identified 21 novel sequence variants, of which 13 are rare, under either additive or recessive models. Of special interest are a missense variant in LOXHD1 (MAF = 1.96%) and a tandem duplication in...
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