The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadAge-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 FBF1 covering 4 exons (MAF = 0.22%) associating with ARHI (OR = 3.7 for homozygotes, P = 1.7 × 10-22 and OR = 4.2 for heterozygotes, P = 5.7 × 10-27, respectively). We constructed an ARHI genetic risk score (GRS) using common variants and showed that a common variant GRS can identify individuals at risk comparable to carriers of rare high penetrance variants. Furthermore, we found that ARHI and tinnitus share genetic causes. This study sheds a new light on the genetic architecture of ARHI, through several rare variants in both Mendelian deafness genes and genes not previously linked to hearing

Hearing thresholds in four-year-old children with weak or no transient-evoked otoacoustic emissions

Play audiometry is part of the general developmental screening covering 4-year-old children in the city of Malmo (Sweden). In an open study, 10% of the cohort was tested with transient-evoked otoacoustic emissions (TEOAEs), using the ILO88 system. The aim was to reveal a hearing loss exceeding 25 dB HL in 4-year-old children. As the first step in determining whether emissions can be used as an efficient method of screening for hearing loss, 295 children were tested with TEOAEs. Audiometry was performed in 160 children. Audiometry was not performed if the TEOAEs were strong (> or = 10 dB SPL) in both ears. In the group with TEOAEs of 8.8dB SPL or greater, all ears tested with audiometry had a pure-tone average (PTA) of 25 dB HL or better. Twenty-one percent of the ears had TEOAEs < or = 0 dB SPL. Only 9% of the ears had a hearing threshold exceeding 25 dB HL (PTA). In conclusions, the number of pathological TEOAE results was much larger than the number of pathological audiograms, making TEOAEs too sensitive to use as a single screening test, but the method may be used as first-line screening

Darling Downs 20 chain map Sheet no. 177C [cartographic material].

Cadastral map of the Darling Downs, Queensland. Relief shown by hachures.; Also available in an electronic version via the Internet at: http://nla.gov.au/nla.map-rm2016-10